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SGCB

From Wikipedia, the free encyclopedia
SGCB
Identifiers
AliasesSGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4
External IDsOMIM: 600900; MGI: 1346523; HomoloGene: 195; GeneCards: SGCB; OMA:SGCB - orthologs
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[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.[5][6]

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

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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.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163069Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029156Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM (Mar 1997). "Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)". Hum Mol Genet. 5 (12): 1953–61. doi:10.1093/hmg/5.12.1953. PMID 8968749.
  6. ^ a b "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".
  7. ^ "UniProt". www.uniprot.org. Retrieved 2023-11-22.

Further reading

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