Gene: LOC107984585

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs104894422 in LOC107984585;SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 20345928 2010 C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.

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

PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

PMID 14981741 2004 Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.

PMID 9658457 1998 To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y.

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

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PMID 9781048 1998 The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like).

PMID 25605665 2015 Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.

PMID 9673983 1998 A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.