SGCB
| SGCB | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 4: 52.02 – 52.04 Mb | Chr 5: 73.79 – 73.81 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/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
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000163069 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029156 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8968749.
- ^ a b "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".
- ^ "UniProt". www.uniprot.org. Retrieved 2023-11-22.
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. S2CID 729999.
- 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. S2CID 13130455.
- 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. 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. S2CID 6206714.
- 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. S2CID 22059919.
- 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" (PDF). 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. S2CID 44664935.
- 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. S2CID 12001595.
- 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. 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. S2CID 22683866.
- 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. S2CID 32274307.
- 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.
External links
- LOVD mutation database: SGCB
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