SGCA sarcoglycan alpha
Gene ID: 6442, updated on 5-Mar-2024Gene type: protein coding
Also known as: ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin
- See all available tests in GTR for this gene
- Go to complete Gene record for SGCA
- Go to Variation Viewer for SGCA variants
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
Genomic context
- Location:
- 17q21.33
- Sequence:
- Chromosome: 17; NC_000017.11 (50166005..50175928)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for SGCA variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SGCA homepage - Leiden Muscular Dystrophy pages
- SNP: GeneViewSNPs linked from GeneView
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