Gene: SGCG

Alternate names for this Gene: 35DAG|A4|DAGA4|DMDA|DMDA1|LGMD2C|LGMDR5|MAM|SCARMD2|SCG3|gamma-SG

Gene Summary: 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).

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.12

Description of this Gene: sarcoglycan gamma

Type of Gene: protein-coding

Gene: LOC107984585

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs104894423 in SGCG;LOC107984585 gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 16832103 2006 A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

PMID 18285821 2008 Revised spectrum of mutations in sarcoglycanopathies.

PMID 25802879 2015 A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

PMID 24534832 2014 Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.

PMID 22095924 2012 Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 24638197 2014 Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.

PMID 8923014 1996 Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

PMID 9266733 1997 A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

PMID 9781048 1998 Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.