人 SGCD (NM_172244) cDNA克隆

Accession: NM_172244
基因名称: SGCD
基因别名: SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta
基因描述: Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 2, mRNA.
种属: Human
CDS区长度: 771 (查看编码区序列)
翻译后氨基酸长度: 256 (查看氨基酸序列)
Transcript Variant: This variant (2, also known as SGCD2), contains an alternate 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
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G118922 人 SGCD (NM_172244) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]