Name

ATIC Gene

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

IMPDH1 Gene

IMP (inosine 5'-monophosphate) dehydrogenase 1

The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

IMPDH1P9 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9

IMPDH1P8 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8

IMPDH1P3 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3

IMPDH1P2 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2

IMPDH1P1 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1

IMPDH1P6 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6

IMPDH1P4 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4

IMPDH2 Gene

IMP (inosine 5'-monophosphate) dehydrogenase 2

This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]

IMPDH1P11 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11

IMPDH1P10 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10

IMPDH1P7 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7

IMPDH1P5 Gene

IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5

LOC100422640 Gene

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase pseudogene