🧬 基因注释：GYS2
📝 官方信息
官方名称：glycogen synthase 2
功能摘要：The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009].
🎯 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