SGCB
| Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbols | SGCB ; A3b; LGMD2E; SGC | ||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 195 | ||||||||
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| RNA expression pattern | |||||||||
| File:PBB GE SGCB 205120 s at tn.png | |||||||||
| File:PBB GE SGCB 205121 at tn.png | |||||||||
| More reference expression data | |||||||||
| Orthologs | |||||||||
| Template:GNF Ortholog box | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | n/a | n/a | |||||||
| Ensembl | n/a | n/a | |||||||
| UniProt | n/a | n/a | |||||||
| RefSeq (mRNA) | n/a | n/a | |||||||
| RefSeq (protein) | n/a | n/a | |||||||
| Location (UCSC) | n/a | n/a | |||||||
| PubMed search | n/a | n/a | |||||||
Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein), also known as SGCB, is a human gene.[1]
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][1]
References
Further reading
- Yoshida M, Ozawa E (1991). "Glycoprotein complex anchoring dystrophin to sarcolemma". J. Biochem. 108 (5): 748–52. PMID 2081733.
- Lim LE, Duclos F, Broux O; et al. (1995). "Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12". Nat. Genet. 11 (3): 257–65. doi:10.1038/ng1195-257. PMID 7581448.
- Bönnemann CG, Modi R, Noguchi S; et al. (1995). "Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex". Nat. Genet. 11 (3): 266–73. doi:10.1038/ng1195-266. PMID 7581449.
- Bönnemann CG, Passos-Bueno MR, McNally EM; et al. (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. PMID 8968749.
- Duggan DJ, Gorospe JR, Fanin M; et al. (1997). "Mutations in the sarcoglycan genes in patients with myopathy". N. Engl. J. Med. 336 (9): 618–24. PMID 9032047.
- Fougerousse F, Durand M, Suel L; et al. (1998). "Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development". Genomics. 48 (2): 145–56. doi:10.1006/geno.1997.5160. PMID 9521867.
- Duclos F, Broux O, Bourg N; et al. (1998). "Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate". Neuromuscul. Disord. 8 (1): 30–8. PMID 9565988.
- Bönnemann CG, Wong J, Ben Hamida C; et al. (1998). "LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3". Neuromuscul. Disord. 8 (3–4): 193–7. PMID 9631401.
- Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. PMID 9864373.
- dos Santos MR, Jorge P, Ribeiro EM; et al. (2000). "Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online". Hum. Mutat. 12 (3): 214–5. PMID 10660328.
- Barresi R, Di Blasi C, Negri T; et al. (2000). "Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations". J. Med. Genet. 37 (2): 102–7. PMID 10662809.
- Durbeej M, Cohn RD, Hrstka RF; et al. (2000). "Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E". Mol. Cell. 5 (1): 141–51. PMID 10678176.
- Yoshida M, Hama H, Ishikawa-Sakurai M; et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. PMID 10767327.
- Fanin M, Hoffman EP, Angelini C, Pegoraro E (2000). "Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy". Hum. Mutat. 16 (1): 13–7. doi:10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V. PMID 10874299.
- Radojevic V, Lin S, Burgunder JM (2000). "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture". Cell Tissue Res. 300 (3): 447–57. PMID 10928275.
- Crosbie RH, Lim LE, Moore SA; et al. (2000). "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions". Hum. Mol. Genet. 9 (13): 2019–27. PMID 10942431.
- Barresi R, Moore SA, Stolle CA; et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.
- Wakayama Y, Inoue M, Kojima H; et al. (2002). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy". Microsc. Res. Tech. 55 (3): 154–63. doi:10.1002/jemt.1166. PMID 11747090.
- Fanin M, Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. 28 (3): 190–9. PMID 12060343.
- Wheeler MT, Zarnegar S, McNally EM (2003). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–54. PMID 12189167.
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