Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.[4][5][6][7]
SGCD | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | SGCD, 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD, sarcoglycan delta, LGMDR6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 601411 MGI: 1346525 HomoloGene: 285 GeneCards: SGCD | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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. The 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.[7]
In melanocytic cells SGCD gene expression may be regulated by MITF.[8]