Harmonizome 3.0

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblA type

The protein encoded by this gene is involved in the translocation g>ofg> g>cobalaming> into the mitochondrion, where it is used in the final steps g>ofg> adenosylg>cobalaming> synthesis. Adenosylg>cobalaming> is a coenzyme required for the activity g>ofg> methylmalonyl-CoA mutase. Defects in this gene are a cause g>ofg> methylmalonic aciduria. [provided by RefSeq, Jul 2008]

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblB type

This gene encodes a protein that catalyzes the final step in the conversion g>ofg> vitamin B(12) into adenosylg>cobalaming> (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause g>ofg> vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblC type, with homocystinuria

The exact function g>ofg> the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for g>cobalaming> (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking g>ofg> g>cobalaming>. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblD type, with homocystinuria

This gene encodes a mitochondrial protein that is involved in an early step g>ofg> vitamin B12 metabolism. Vitamin B12 (g>cobalaming>) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder g>ofg> g>cobalaming> metabolism that is characterized by decreased levels g>ofg> the coenzymes adenosylg>cobalaming> and methylg>cobalaming>. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblD type, with homocystinuria pseudogene

methylmalonic aciduria (g>cobalaming> g>deficiencyg>) cblD type, with homocystinuria pseudogene

probable lysosomal g>cobalaming> transporter

cubilin (intrinsic factor-g>cobalaming> receptor)

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role g>ofg> receptor is supported by the presence g>ofg> 27 CUB domains. Cubulin is located within the epithelium g>ofg> intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

cubilin (intrinsic factor-g>cobalaming> receptor) pseudogene 2

cubilin (intrinsic factor-g>cobalaming> receptor) pseudogene 3

cubilin (intrinsic factor-g>cobalaming> receptor) pseudogene 1

g>cobalaming> binding intrinsic factor

This gene is a member g>ofg> the g>cobalaming> transport protein family. It encodes a glycoprotein secreted by parietal cells g>ofg> the gastric mucosa and is required for adequate absorption g>ofg> vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]

Split-hand/foot malformation with long bone g>deficiencyg> 3

Glucocorticoid g>deficiencyg> 2

glucocorticoid g>deficiencyg> 3

immunoglobulin A (IgA) g>deficiencyg> susceptibility 1

Split-hand/foot malformation with long g>deficiencyg> 2

agammaglobulinemia, X-linked 2 (with growth hormone g>deficiencyg>)

Radial ray g>deficiencyg>

multiple coagulation factor g>deficiencyg> 2 pseudogene 1

Split-hand/foot malformation with long bone g>deficiencyg> 1

candidiasis, nail 1 (with ICAM1 g>deficiencyg>)

multiple coagulation factor g>deficiencyg> 2

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport g>ofg> coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined g>deficiencyg> g>ofg> FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR g>ofg> this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene g>ofg> this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isg>ofg>orms. [provided by RefSeq, Apr 2016]

Natural killer cell g>deficiencyg>, familial isolated