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SGCA sarcoglycan alpha

Also known as: ADL; DAG2; 50DAG; DMDA2; LGMD2D; SCARMD1; adhalin

Summary

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Associated conditions

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DescriptionTests
Limb-girdle muscular dystrophy, type 2D
MedGen: C2936332OMIM: 608099GeneReviews: Not available
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Genomic context

Location:
17q21.33
Sequence:
Chromosome: 17; NC_000017.11 (50165517..50175932)
Total number of exons:
10

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