SGCA Back

sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

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NCBI Description of SGCA
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.

Community Annotation of SGCA Add / Edit SGCA: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SGCA is highly significantly mutated in
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SGCA is significantly mutated in
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SGCA is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SGCA