Protein Name | sarcoglycan delta |
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Organism | Homo sapiens |
Gene ID | 6444 |
Gene Symbol | SGCD |
UniProt | Q92629 (SGCD_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
8
Total Number of Articles : 6 |
Description |
sarcoglycan delta |
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, Jul 2008] |
synonyms |
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Properties | |