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Gene : SGCA Homo sapiens

Name  ? sarcoglycan alpha Cytological Location  17q21.33
Brief Description  sarcoglycan alpha
description  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]
  • synonyms:
  • OTTHUMG00000162024,
  • adhalin,
  • L34355,
  • DAG2,
  • A2,
  • HGNC:10805,
  • uc002iqi.4,
  • ADL,
  • DMDA2,
  • 50kD DAG,
  • limb girdle muscular dystrophy 2D,
  • DMDA2,
  • sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein),
  • LGMD2D,
  • adhalin,
  • SCARMD1,
  • LGMD2D,
  • NM_000023,
  • ADL,
  • LGMDR3,
  • 50DAG,
  • SCARMD1,
  • SGCA
  • identifiers:
  • 6442,
  • ENSG00000108823,
  • SGCA

Genome feature

Region: gene ? Length: 10412  
Location: 17:50165517-50175928 Cyto location: 17q21.33

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1 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results