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SGCA

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For Research Use Only. Not For Clinical Use.


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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Late spermatids, Skeletal myocytes, Early spermatids, Cardiomyocytes)

Immune cell specificity

Group enriched (naive B-cell, memory B-cell, myeloid DC, non-classical monocyte, intermediate monocyte)

Cell line specificity

Cell line enriched (LHCN-M2)

Interaction

Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

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