Gene Symbol | IMPDH1 |
Entrez Gene ID | 3614 |
Full Name | inosine monophosphate dehydrogenase 1 |
Synonyms | IMPD,IMPD1,IMPDH-I,LCA11,RP10,sWSS2608 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 10, 180105 (3); Leber congenital amaurosis 11, 613837 (3) |