SGCB

SGCB
Identifikatori
Aliasi	SGCB
Vanjski ID-jevi	OMIM: 600900 MGI: 1346523 HomoloGene: 195 GeneCards: SGCB
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	52,038,299 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	73,805,133 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ortolozi
	6443
	24051
	ENSG00000163069
	ENSMUSG00000029156
	Q16585; Q5U0N0
	P82349
	NM_000232
	NM_011890
	NP_000223; NP_000223.1
	NP_036020
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Beta-sarkoglikan je protein kojeg kod čovjeka kodira gen SGCB.^[5]^[6]

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.).^[6]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163069 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029156 - Ensembl, maj 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.
^ 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.
^ ^a ^b "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".

Dopunska literatura[uredi | uredi izvor]

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[uredi | uredi izvor]

LOVD mutation database: SGCB

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163069 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029156 - Ensembl, maj 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.

[pmid8968749-5] 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.

[entrez-6] "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".

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