PMVK
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1321931
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资源简介：
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
该基因编码一种属于脂肪酸激酶、同型丝氨酸激酶、异戊二烯焦磷酸激酶以及磷脂异戊二烯焦磷酸激酶（GHMP）家族的过氧化物酶体酶。所编码的蛋白质催化异戊二烯焦磷酸转化为异戊二烯焦磷酸二酯的过程，此过程为异戊二烯生物合成途径中的第五步。该基因的突变与某些类型的角化棘层瘤有关，包括播散性浅层角化棘层瘤。可变剪接导致多种转录本变体。[提供者：RefSeq，2017年2月]
提供机构：
Rat Genome Database
