🧬 基因注释:B4GALNT1
📝 官方信息
官方名称:beta-1,4-N-acetyl-galactosaminyltransferase 1
功能摘要:GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录