Entrez gene ID | | 6444 |
Official gene symbol | | SGCD |
Full name | | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
Aliases | | ,35DAG,CMD1L,DAGD,MGC22567,SG-delta,SGCDP,SGD, |
Gene summary | | 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] |
Location | | Chromosome: 5 Locus: 5q33-q34 |
Gene position | | 155753767 - 156194799 Map Viewer |
Gene orientation | | plus |
Gene size | | 441033 bp |
Gene sequence |
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OMIM ID | | 601411 |
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