菜单 基因医生

该基因编码的蛋白质是一种ii型膜蛋白，它催化唾液酸从cmp唾液酸转移到含半乳糖的底物。编码的蛋白质通常存在于高尔基体中，但可以通过蛋白质水解加工成可溶性形式。该蛋白是糖基转移酶家族29的成员。该基因突变与一种常染色体隐性遗传的非症状性认知功能障碍以及婴儿癫痫性脑病有关已发现该基因的多个转录变体编码多种不同的亚型。[由RefSeq提供，2017年7月]
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]