人 IMPDH1 (NM_001142573) cDNA克隆

Accession: NM_001142573
基因名称: IMPDH1
基因别名: IMPD; RP10; IMPD1; LCA11; sWSS2608
基因描述: Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.
种属: Human
CDS区长度: 1545 (查看编码区序列)
翻译后氨基酸长度: 514 (查看氨基酸序列)
Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.
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G150243 人 IMPDH1 (NM_001142573) cDNA克隆 pDONR223 2ug质粒 点击询价

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]