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SGCB

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.{{cite journal | vauthors = 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 | title = Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) | journal = Hum Mol Genet | volume = 5 | issue = 12 | pages = 1953–61 |date=Mar 1997 | pmid = 8968749 | doi =10.1093/hmg/5.12.1953 | doi-access = free }}{{cite web | title = Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6443}}

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).{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q16585/entry#disease_variants |access-date=2023-11-22 |website=www.uniprot.org}} This condition causes pelvic and shoulder muscle wasting, usually from childhood.

References

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Further reading

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  • {{cite journal | vauthors=Yoshida M, Ozawa E |title=Glycoprotein complex anchoring dystrophin to sarcolemma. |journal=J. Biochem. |volume=108 |issue= 5 |pages= 748–52 |year= 1991 |pmid= 2081733 |doi= 10.1093/oxfordjournals.jbchem.a123276}}
  • {{cite journal |vauthors=Lim LE, Duclos F, Broux O, etal |title=Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 257–65 |year= 1995 |pmid= 7581448 |doi= 10.1038/ng1195-257 |s2cid=729999 }}
  • {{cite journal |vauthors=Bönnemann CG, Modi R, Noguchi S, etal |title=Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 266–73 |year= 1995 |pmid= 7581449 |doi= 10.1038/ng1195-266 |s2cid=13130455 }}
  • {{cite journal |vauthors=Duggan DJ, Gorospe JR, Fanin M, etal |title=Mutations in the sarcoglycan genes in patients with myopathy. |journal=N. Engl. J. Med. |volume=336 |issue= 9 |pages= 618–24 |year= 1997 |pmid= 9032047 |doi=10.1056/NEJM199702273360904 |doi-access=free }}
  • {{cite journal |vauthors=Fougerousse F, Durand M, Suel L, etal |title=Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. |journal=Genomics |volume=48 |issue= 2 |pages= 145–56 |year= 1998 |pmid= 9521867 |doi= 10.1006/geno.1997.5160 }}
  • {{cite journal |vauthors=Duclos F, Broux O, Bourg N, etal |title=Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. |journal=Neuromuscul. Disord. |volume=8 |issue= 1 |pages= 30–8 |year= 1998 |pmid= 9565988 |doi=10.1016/S0960-8966(97)00135-1 |s2cid=6206714 }}
  • {{cite journal |vauthors=Bönnemann CG, Wong J, Ben Hamida C, etal |title=LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. |journal=Neuromuscul. Disord. |volume=8 |issue= 3–4 |pages= 193–7 |year= 1998 |pmid= 9631401 |doi=10.1016/S0960-8966(98)00014-5 |s2cid=22059919 }}
  • {{cite journal | vauthors=Chan YM, Bönnemann CG, Lidov HG, Kunkel LM |title=Molecular organization of sarcoglycan complex in mouse myotubes in culture. |journal=J. Cell Biol. |volume=143 |issue= 7 |pages= 2033–44 |year= 1999 |pmid= 9864373 |doi=10.1083/jcb.143.7.2033 | pmc=2175228 }}
  • {{cite journal |vauthors=dos Santos MR, Jorge P, Ribeiro EM, etal |title=Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 214–5 |year= 2000 |pmid= 10660328 }}
  • {{cite journal |vauthors=Barresi R, Di Blasi C, Negri T, etal |title=Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. |journal=J. Med. Genet. |volume=37 |issue= 2 |pages= 102–7 |year= 2000 |pmid= 10662809 |doi=10.1136/jmg.37.2.102 | pmc=1734518 }}
  • {{cite journal |vauthors=Durbeej M, Cohn RD, Hrstka RF, etal |title=Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. |journal=Mol. Cell |volume=5 |issue= 1 |pages= 141–51 |year= 2000 |pmid= 10678176 |doi=10.1016/S1097-2765(00)80410-4 |url=http://www.physiology.uiowa.edu/campbell/Publications/PDF/264Durbeej.pdf }}
  • {{cite journal |vauthors=Yoshida M, Hama H, Ishikawa-Sakurai M, etal |title=Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. |journal=Hum. Mol. Genet. |volume=9 |issue= 7 |pages= 1033–40 |year= 2000 |pmid= 10767327 |doi=10.1093/hmg/9.7.1033 |doi-access=free }}
  • {{cite journal | vauthors=Fanin M, Hoffman EP, Angelini C, Pegoraro E |title=Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. |journal=Hum. Mutat. |volume=16 |issue= 1 |pages= 13–7 |year= 2000 |pmid= 10874299 |doi= 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V |s2cid=44664935 |doi-access=free }}
  • {{cite journal | vauthors=Radojevic V, Lin S, Burgunder JM |title=Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture. |journal=Cell Tissue Res. |volume=300 |issue= 3 |pages= 447–57 |year= 2000 |pmid= 10928275 |doi=10.1007/s004410000213 |s2cid=12001595 }}
  • {{cite journal |vauthors=Crosbie RH, Lim LE, Moore SA, etal |title=Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 2019–27 |year= 2000 |pmid= 10942431 |doi=10.1093/hmg/9.13.2019 |doi-access=free }}
  • {{cite journal |vauthors=Barresi R, Moore SA, Stolle CA, etal |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554–60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 |doi-access= free }}
  • {{cite journal |vauthors=Wakayama Y, Inoue M, Kojima H, etal |title=Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy. |journal=Microsc. Res. Tech. |volume=55 |issue= 3 |pages= 154–63 |year= 2002 |pmid= 11747090 |doi= 10.1002/jemt.1166 |s2cid=22683866 |doi-access=free }}
  • {{cite journal | vauthors=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190–9 |year= 2002 |pmid= 12060343 |doi=10.1046/j.1365-2990.2002.00389.x |s2cid=32274307 }}
  • {{cite journal | vauthors=Wheeler MT, Zarnegar S, McNally EM |title=Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=11 |issue= 18 |pages= 2147–54 |year= 2003 |pmid= 12189167 |doi=10.1093/hmg/11.18.2147 |doi-access=free }}

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External links

  • LOVD mutation database: [http://www.dmd.nl/nmdb2/?select_db=SGCB SGCB]

{{Muscle tissue}}

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