基因注释：SGCA

官方名称：sarcoglycan alpha

功能摘要：This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].

• U2af1 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录