Sarcoglycan, Delta

Alternative Names

  • SGCD
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OMIM Number

601411

NCBI Gene ID

6444

Uniprot ID

Q92629

Length

1,039,153 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Delta-sarcoglycan

Molecular Mass

32071 Da

Amino Acid Count

289

Genomic Location

chr5:155,728,635-156,767,787

Gene Map Locus
5q33.2-q33.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000005.10:g.156235246_156235247insCTACTGATUnited Arab EmiratesNC_000005.10:g.156235246_156235247insCTACTGATNG_008693.2:g.369903_369904insCTACTGAT; NC_000005.10:g.156235246_156235247insCTACTGAT1305056
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