基因名:
IMPDH1
产品别名:
IMPD; IMPD1; IMPDH-I; LCA11; RP10; sWSS2608; IMPDH1; inosine monophosphate dehydrogenase 1; inosine monophosphate dehydrogenase 1; inosine-5'-monophosphate dehydrogenase 1; IMP (inosine 5'-monophosphate) dehydrogenase 1; IMP (inosine monophosphate) dehydrogenase 1; IMPD 1; IMPDH 1; 肌苷单磷酸脱氢酶1;
背景信息:
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].