菜单 基因医生

该基因是7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半乳糖具有唯一的特异性；所有的半乳糖都以beta1,4连锁转移到类似的受体糖：glcnac、glc和xyl。每种beta4galt在不同糖缀合物和糖结构的生物合成中都有不同的功能。作为ii型膜蛋白，它们有一个n-末端疏水信号序列，该序列将蛋白质引导到高尔基体，然后高尔基体仍保持未被分离，以发挥跨膜锚定的作用。根据序列相似性，beta4galts形成四个群：beta4galt1和beta4galt2、beta4galt3和beta4galt4、beta4galt5和beta4galt6和beta4galt7。该基因编码一种酶，该酶可能主要参与聚-N-乙酰乳糖胺链的第一个N-乙酰乳糖胺单元的合成。已发现该基因的多个编码相同蛋白质的选择性剪接转录变体。[由RefSeq提供，2010年12月]
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. 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. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]