| Name |
|---|
SLC25A36 Genesolute carrier family 25 (pyrimidine nucleotide carrier), member 36 Enables pyrimidine nucleotide transmembrane transporter activity. Involved in mitochondrial genome maintenance; pyrimidine nucleotide transport; and regulation of mitochondrial membrane potential. Located in mitochondrion. Implicated in familial hyperinsulinemic hypoglycemia 8. [provided by Alliance of Genome Resources, Mar 2025] |
SLC25A33 Genesolute carrier family 25 (pyrimidine nucleotide carrier), member 33 SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008] |
LOC653698 Genesolute carrier family 25 (pyrimidine nucleotide carrier), member 33 pseudogene |
NUDT19P5 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5 |
NUDT19P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1 |
NUDT19P3 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3 |
NUDT19P4 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4 |
NUDT4P2 Genenudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 |
NUDT4P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 Predicted to enable pyrophosphatase activity. Predicted to be involved in diphosphoinositol polyphosphate metabolic process and nucleotide catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT15P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 |
NUDT16 Genenudix (nucleoside diphosphate linked moiety X)-type motif 16 Enables several functions, including RNA binding activity; metal ion binding activity; and pyrophosphatase activity. Involved in RNA metabolic process and positive regulation of cell cycle process. Located in cytoplasm; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT9P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 |
NME2P1 GeneNME/NM23 nucleoside diphosphate kinase 2 pseudogene 1 Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in regulation of apoptotic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100288125 GeneNME/NM23 nucleoside diphosphate kinase 2 pseudogene |
LOC642355 Genenucleoside diphosphate kinase, mitochondrial-like |
LOC100289315 GeneNME/NM23 nucleoside diphosphate kinase 2 pseudogene |
NUDT22 Genenudix (nucleoside diphosphate linked moiety X)-type motif 22 Enables UDP-sugar diphosphatase activity and metal ion binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT21 Genenudix (nucleoside diphosphate linked moiety X)-type motif 21 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008] |
NME1P1 GeneNME/NM23 nucleoside diphosphate kinase 1 pseudogene 1 |
NUDT12 Genenudix (nucleoside diphosphate linked moiety X)-type motif 12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008] |
NUDT13 Genenudix (nucleoside diphosphate linked moiety X)-type motif 13 Predicted to enable NADH pyrophosphatase activity. Predicted to be involved in NADH metabolic process and NADP catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT10 Genenudix (nucleoside diphosphate linked moiety X)-type motif 10 This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 2015] |
NUDT11 Genenudix (nucleoside diphosphate linked moiety X)-type motif 11 NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008] |
NUDT17 Genenudix (nucleoside diphosphate linked moiety X)-type motif 17 Predicted to enable NADH pyrophosphatase activity. Predicted to be involved in NAD catabolic process; NADH metabolic process; and NADP catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT14 Genenudix (nucleoside diphosphate linked moiety X)-type motif 14 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] |
NUDT15 Genenudix (nucleoside diphosphate linked moiety X)-type motif 15 This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016] |
NUDT18 Genenudix (nucleoside diphosphate linked moiety X)-type motif 18 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012] |
NUDT19 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 Predicted to enable magnesium ion binding activity. Predicted to be involved in acyl-CoA metabolic process and coenzyme A catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT16L1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 Enables snoRNA binding activity. Involved in negative regulation of double-strand break repair via nonhomologous end joining. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT15P2 Genenudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 |
NUDT21P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1 |
NUDT8 Genenudix (nucleoside diphosphate linked moiety X)-type motif 8 Predicted to enable magnesium ion binding activity and manganese ion binding activity. Predicted to be involved in nucleoside phosphate catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT9 Genenudix (nucleoside diphosphate linked moiety X)-type motif 9 The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
NUDT1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 1 Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018] |
NUDT2 Genenudix (nucleoside diphosphate linked moiety X)-type motif 2 This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011] |
NUDT3 Genenudix (nucleoside diphosphate linked moiety X)-type motif 3 NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011] |
NUDT4 Genenudix (nucleoside diphosphate linked moiety X)-type motif 4 The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008] |
NUDT5 Genenudix (nucleoside diphosphate linked moiety X)-type motif 5 This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013] |
NUDT6 Genenudix (nucleoside diphosphate linked moiety X)-type motif 6 This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
NUDT7 Genenudix (nucleoside diphosphate linked moiety X)-type motif 7 The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
NME4 GeneNME/NM23 nucleoside diphosphate kinase 4 The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008] |
NME6 GeneNME/NM23 nucleoside diphosphate kinase 6 Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010] |
NME1 GeneNME/NM23 nucleoside diphosphate kinase 1 This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008] |
NME2 GeneNME/NM23 nucleoside diphosphate kinase 2 Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Nov 2010] |
NME3 GeneNME/NM23 nucleoside diphosphate kinase 3 Enables nucleoside diphosphate kinase activity. Involved in DNA repair; mitochondrial fusion; and nucleoside triphosphate biosynthetic process. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025] |
NUDT19P2 Genenudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2 |
NUDT16P1 Genenudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1 |
LOC100289320 GeneNME/NM23 nucleoside diphosphate kinase 2 pseudogene |
LOC100287294 Geneequilibrative nucleoside transporter 4-like |
LOC101059986 Genecancer-related nucleoside-triphosphatase pseudogene |
SLC29A4 Genesolute carrier family 29 (equilibrative nucleoside transporter), member 4 This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
SLC29A3 Genesolute carrier family 29 (equilibrative nucleoside transporter), member 3 This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010] |
SLC29A2 Genesolute carrier family 29 (equilibrative nucleoside transporter), member 2 The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008] |
SLC29A1 Genesolute carrier family 29 (equilibrative nucleoside transporter), member 1 This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] |
PNP Genepurine nucleoside phosphorylase This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008] |
LOC647275 Genepurine nucleoside phosphorylase pseudogene |
SLC28A1 Genesolute carrier family 28 (concentrative nucleoside transporter), member 1 Enables azole transmembrane transporter activity; pyrimidine- and adenosine-specific:sodium symporter activity; and uridine transmembrane transporter activity. Involved in azole transmembrane transport and nucleoside transport. Located in apical plasma membrane; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025] |
ITPA Geneinosine triphosphatase (nucleoside triphosphate pyrophosphatase) This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] |
SLC28A2 Genesolute carrier family 28 (concentrative nucleoside transporter), member 2 Enables neurotransmitter transmembrane transporter activity and nucleoside transmembrane transporter activity. Involved in neurotransmitter transport; nucleoside transport; and purine nucleobase transmembrane transport. Located in apicolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC28A3 Genesolute carrier family 28 (concentrative nucleoside transporter), member 3 Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008] |
SLC29A4P1 Genesolute carrier family 29 (nucleoside transporters), member 4 pseudogene 1 |
SLC29A4P2 Genesolute carrier family 29 (nucleoside transporters), member 4 pseudogene 2 |
LOC402269 Geneequilibrative nucleoside transporter 4-like |
NTPCR Genenucleoside-triphosphatase, cancer-related The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016] |
PDSS2 Geneprenyl (decaprenyl) diphosphate synthase, subunit 2 The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009] |
PDSS1 Geneprenyl (decaprenyl) diphosphate synthase, subunit 1 The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008] |
IDI1 Geneisopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008] |
IDI2 Geneisopentenyl-diphosphate delta isomerase 2 The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016] |
FDFT1 Genefarnesyl-diphosphate farnesyltransferase 1 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008] |
PDSS1P1 Geneprenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 1 |
PDSS1P2 Geneprenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2 |
DHDDS Genedehydrodolichyl diphosphate synthase The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] |
GGPS1 Genegeranylgeranyl diphosphate synthase 1 This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010] |
LOC100130299 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
LOC647002 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
FDPS Genefarnesyl diphosphate synthase This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008] |
FDPSP10 Genefarnesyl diphosphate synthase pseudogene 10 |
LOC100421361 Geneisopentenyl-diphosphate delta isomerase 1 pseudogene |
FDPSP9 Genefarnesyl diphosphate synthase pseudogene 9 |
FDPSP3 Genefarnesyl diphosphate synthase pseudogene 3 |
FDPSP2 Genefarnesyl diphosphate synthase pseudogene 2 |
FDPSP1 Genefarnesyl diphosphate synthase pseudogene 1 |
FDPSP7 Genefarnesyl diphosphate synthase pseudogene 7 |
FDPSP6 Genefarnesyl diphosphate synthase pseudogene 6 |
FDPSP5 Genefarnesyl diphosphate synthase pseudogene 5 |
FDPSP4 Genefarnesyl diphosphate synthase pseudogene 4 |
FDPSP8 Genefarnesyl diphosphate synthase pseudogene 8 |