UNIPROT #

Q16586

PROTEIN NAME

alpha sarcoglycan

SYNONYMS

50 DAG antibody; 50 kDa dystrophin associated glycoprotein antibody; 50 kDa dystrophin-associated glycoprotein antibody; 50DAG antibody; 50kD DAG antibody; 59kDa antibody; A2 antibody; adhalin antibody; ADL antibody; Alpha SG antibody; Alpha-sarcoglycan antibody; Alpha-SG antibody; Asg antibody; DAG2 antibody; DMDA2 antibody; Dystroglycan 2 antibody; Dystroglycan-2 antibody; LGMD2D antibody; sarcoglycan, alpha (dystrophin-associated glycoprotein) antibody; SCARMD1 antibody; Sgca antibody; SGCA_HUMAN antibody

SEQUENCE SIMILARITIES

Belongs to the sarcoglycan alpha/epsilon family.

TISSUE SPECIFICITY

Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

SUBCELLULAR LOCATION

Sarcolemma, cytoskeleton.

FUNCTION

The sarcoglycan transmembrane proteins are members of the dystrophin complex. Sarcoglycans cluster together to form a complex, which is localized in the cell membrane of skeletal, cardiac, and smooth muscle fibers. Four sarcoglycan subunit proteins, designated α-, β-, γ- and δ-sarcoglycan, form a complex on the skeletal muscle cell surface membrane. A genetic defect in any one of these proteins causes the loss or marked decrease of the whole sarcoglycan complex, which is observed in the autosomal recessive muscular dystrophy, sarcoglycanopathy. In smooth muscle, β- and δ-sarcoglycans are associated with ε-sarcoglycan, a glycoprotein homologous to α-sarcoglycan. Additionally, a complete deficiency in δ-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy.