This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
- Muscle organ development
- Muscle fiber development
- Cardiac muscle cell development
- Vascular smooth muscle cell development
- Muscular dystrophy, limb-girdle, autosomal recessive 4
- Qualitative or quantitative defects of beta-sarcoglycan
- Muscular dystrophy, limb-girdle, autosomal recessive 2
- Limb-girdle muscular dystrophy
- Muscular dystrophy
Gene Location
