SGCB

SGCB
Identifiers
AliasesSGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4
External IDsOMIM: 600900 MGI: 1346523 HomoloGene: 195 GeneCards: SGCB
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000232

NM_011890

RefSeq (protein)

NP_000223
NP_000223.1

NP_036020

Location (UCSC)Chr 4: 52.02 – 52.04 MbChr 5: 73.79 – 73.81 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

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].

Clinical significance

Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4). This condition causes pelvic and shoulder muscle wasting, usually from childhood.


This page was last updated at 2024-02-01 11:22 UTC. Update now. View original page.

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