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. [provided by RefSeq]

Full Name

SGCA

Function

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Biological Process

Biological Process muscle contractionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process response to denervation involved in regulation of muscle adaptationIEA:Ensembl
Biological Process skeletal muscle tissue regenerationIEA:Ensembl

Cellular Location

Cell membrane, sarcolemma
Cytoplasm, cytoskeleton

Involvement in disease

Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3):
An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.

Topology

Extracellular: 24-290
Helical: 291-311
Cytoplasmic: 312-387