SGCB
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.[5][6]
| SGCB | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 600900; MGI: 1346523; HomoloGene: 195; GeneCards: SGCB; OMA:SGCB - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM].[6]
Clinical significance
Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4).[7] This condition causes pelvic and shoulder muscle wasting, usually from childhood.