SGCB

SGCB
Identifikatori
Aliasi	SGCB
Vanjski ID-jevi	OMIM: 600900 MGI: 1346523 HomoloGene: 195 GeneCards: SGCB
Lokacija gena (čovjek) Hrom. Hromosom 4 (čovjek) Bend 4q12 Početak 52,020,706 bp Kraj 52,038,299 bp
Lokacija gena (miš) Hrom. Hromosom 5 (miš) Bend 5|5 C3.3 Početak 73,790,092 bp Kraj 73,805,133 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ortolozi
Vrste	Čovjek	Miš
Entrez	6443	24051
Ensembl	ENSG00000163069	ENSMUSG00000029156
UniProt	Q16585 Q5U0N0	P82349
RefSeq (mRNK)	NM_000232	NM_011890
RefSeq (bjelančevina)	NP_000223 NP_000223.1	NP_036020
Lokacija (UCSC)	Chr 4: 52.02 – 52.04 Mb	Chr 5: 73.79 – 73.81 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Beta-sarkoglikan je protein kojeg kod čovjeka kodira gen SGCB.

Komplet distrofin-glikoproteina (DGC) je multisubunitni proteinski kompleks koji obuhvata sarkolemu i pruža strukturnu vezu između podsarkolemsog citoskeleta i vanćelijsčog matriksa mišićnih ćelija. Postoje tri glavna podkompleksa DGC-a: citoplazmatski proteini distrofin (DMD; MIM 300377) i sintrofin (SNTA1; MIM 601017), alfa– i beta-distroglikani (vidi MIM 128239) i sarkoglikani (vidi npr. SGCA; MIM 600119) (Crosbie et al., 2000.).

Dopunska literatura

• Yoshida M, Ozawa E (1991). "Glycoprotein complex anchoring dystrophin to sarcolemma". J. Biochem. 108 (5): 748–52. doi:10.1093/oxfordjournals.jbchem.a123276. 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.
• 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. doi:10.1056/NEJM199702273360904. 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. doi:10.1016/S0960-8966(97)00135-1. 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. doi:10.1016/S0960-8966(98)00014-5. 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. doi:10.1083/jcb.143.7.2033. PMC 2175228. 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. doi:10.1136/jmg.37.2.102. PMC 1734518. 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. doi:10.1016/S1097-2765(00)80410-4. 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. doi:10.1093/hmg/9.7.1033. 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. doi:10.1007/s004410000213. 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. doi:10.1093/hmg/9.13.2019. 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. doi:10.1046/j.1365-2990.2002.00389.x. 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. doi:10.1093/hmg/11.18.2147. PMID 12189167.

Vanjski linkovi

• LOVD mutation database: SGCB