人 SGCA (NM_001135697) cDNA克隆

Accession: NM_001135697
基因名称: SGCA
基因别名: A2; ADL; DAG2; DMDA2; 50-DAG; LGMD2D; SCARMD1; adhalin
基因描述: Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 2, mRNA.
种属: Human
CDS区长度: 792 (查看编码区序列)
翻译后氨基酸长度: 263 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks a segment of the sarcoglycan domain including the transmembrane domain, compared to isoform 1.
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G110537 人 SGCA (NM_001135697) cDNA克隆 pDONR223 2ug质粒 点击询价

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]