基因名称(Gene Name)
IMPDH1 IMPD1
免疫原
Synthesized peptide derived from human IMDH1 AA range: 304-354
特异性
This antibody detects endogenous levels of IMDH1 at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
catalytic activity:Inosine 5'-phosphate + NAD(+) + H(2)O = xanthosine 5'-phosphate + NADH.,cofactor:Potassium.,disease:Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10) [MIM:180105]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP10 inheritance is autosomal dominant.,function:Rate limiting enzyme in the de novo synthesis of guanine nucleotides and therefore is involved in the regulation of cell growth. It may also have a role in the development of malignancy and the growth progression of some tumors.,online information:Retina International's Scientific Newsletter,pathway:Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.,similar
