SGCD (NM_001128209) - sarcoglycan delta
Delta-Sarcoglycan Isoform 3
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Protein 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].
- Strand
- +
- Chromosome
- 5
- Protein
- 289 residues
- All mutations
- 108
- PTM sites
- 6
- CDS
- 155,771,498 - 156,186,401
- Transcription
- 155,753,766 - 156,194,798
Usage summary
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