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SGCG

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.

Involvement in disease

Muscular dystrophy, limb-girdle, autosomal recessive 5

LGMDR5

An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the sarcoglycan beta/delta/gamma/zeta family.

Tissue Specificity

Expressed in skeletal and heart muscle.

Cellular localization

Alternative names

Gamma-sarcoglycan, Gamma-SG, 35 kDa dystrophin-associated glycoprotein, 35DAG, SGCG

swissprot:Q13326 entrezGene:6445 omim:608896