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

rs9552911 in SGCG gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 23300278 2013 On combined meta-analysis in Sikh populations (n = 7,329; 3,354 case subjects), we identified a novel locus in association with T2D at 13q12 represented by a directly genotyped intronic SNP (rs9552911, P = 1.82 × 10⁻⁸) in the SGCG gene.

rs501909 in SGCG gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs143009120 in SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

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

PMID 7481775 1995 Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.

PMID 24552312 2014 Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.

PMID 20623375 2010 Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

PMID 22240777 2012 A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

PMID 23929688 2014 Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression.

PMID 12040521 2002 [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation].

PMID 12566530 2003 Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

PMID 10942431 2000 Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.

PMID 11801399 2002 Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.

PMID 17897828 2008 Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

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