B4GALT6 - beta-1,4-galactosyltransferase 6 Gene

中文名称：β-1,4-半乳糖基转移酶 6

种属: Homo sapiens

同用名: B4Gal-T6; beta4Gal-T6

关于 B4GALT6

功能概要

该基因是人类七个 β-1,4-半乳糖基转移酶 (beta4GalT) 基因之一。它们编码 II 型膜结合糖蛋白，这些糖蛋白似乎对供体底物 UDP-半乳糖具有专一性；所有都将半乳糖以 beta1,4 键转移到类似的受体糖：GlcNAc、Glc 和 Xyl。每个 beta4GalT 在不同糖缀合物和糖结构的生物合成中具有独特的功能。作为 II 型膜蛋白，它们具有一个 N 端疏水信号序列，该序列将蛋白质引导至高尔基体，然后保持未切割状态以充当跨膜锚。该基因产生多种蛋白质亚型 - 其中一些预计缺乏 N 末端疏水信号序列和跨膜结构域。通过序列相似性，beta4GalTs 形成四组：beta4GalT1 和 beta4GalT2、beta4GalT3 和 beta4GalT4、beta4GalT5 和 beta4GalT6 以及 beta4GalT7。由该基因编码的典型酶是一种对糖脂生物合成很重要的乳糖神经酰胺合酶。[RefSeq 提供，2020 年 1 月]

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]