GFUS - GDP-L-fucose synthase Gene

中文名称：GDP-L-岩藻糖合酶

种属: Homo sapiens

同用名: FX; P35B; TSTA3; SDR4E1

关于 GFUS

功能概要

组织特异性移植抗原 P35B 是一种 NADP (H) 结合蛋白。它催化 GDP-D-甘露糖代谢中的两步差向异构酶和还原酶反应，将 GDP-4-keto-6-D-脱氧甘露糖转化为 GDP-L-岩藻糖。 GDP-L-岩藻糖是多种岩藻糖基转移酶的底物，参与许多糖缀合物的表达，包括血型 ABH 抗原和发育粘附抗原。该基因的突变可能导致 II 型白细胞粘附缺陷。[RefSeq 提供，2008 年 7 月]

Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]