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LGMDR5

Chr 13AR

sarcoglycan gamma

Also known as: 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM

NCBI Gene: 6445 OMIM: 253700

Gamma-sarcoglycan is a sarcolemmal transmembrane glycoprotein that forms part of the dystrophin-glycoprotein complex, providing structural linkage between the muscle cell cytoskeleton and extracellular matrix. Mutations cause limb-girdle muscular dystrophy, autosomal recessive 5 (LGMDR5), which typically presents in early childhood with progressive weakness of the hip and shoulder girdle muscles. This condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— LGMDR5

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Clinical Trials

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GeneReview available — LGMDR5

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