SGCG
| Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SGCG ; A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; SCARMD2; SCG3; TYPE | ||||||||||||
| External IDs | OMIM: 608896 MGI: 1346524 HomoloGene: 194 GeneCards: SGCG Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6445 | 24053 | |||||||||||
| Ensembl | ENSG00000102683 | ENSMUSG00000035296 | |||||||||||
| UniProt | Q13326 | P82348 | |||||||||||
| RefSeq (mRNA) | NM_000231 | NM_011892 | |||||||||||
| RefSeq (protein) | NP_000222 | NP_036022 | |||||||||||
| Location (UCSC) | Chr 13: 23.76 – 23.9 Mb | Chr 14: 61.22 – 61.26 Mb | |||||||||||
| PubMed search | |||||||||||||
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene.[1][2]
Function
Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C).[2]
Interactions
SGCG has been shown to interact with FLNC.[3][4]
References
- ↑ Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A et al. (March 1997). "A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India". Hum Mol Genet 5 (12): 2019–22. doi:10.1093/hmg/5.12.2019. PMID 8968757. Vancouver style error (help)
- ↑ 2.0 2.1 "Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)".
- ↑ Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG et al. (October 2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve 28 (4): 472–83. doi:10.1002/mus.10465. PMID 14506720.
- ↑ Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG et al. (January 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222.
Further reading
- Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M et al. (1995). "Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.". Science 270 (5237): 819–22. doi:10.1126/science.270.5237.819. PMID 7481775.
- Ben Othmane K, Speer MC, Stauffer J, Blel S, Middleton L, Ben Hamida C et al. (1995). "Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)". Am. J. Hum. Genet. 57 (3): 732–4. PMC 1801260. PMID 7668303.
- Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K (1993). "Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.". Am. J. Hum. Genet. 53 (5): 1038–50. PMC 1682302. PMID 8105688.
- Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FM, Moomaw C et al. (1996). "Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.". FEBS Lett. 381 (1-2): 15–20. doi:10.1016/0014-5793(96)00056-7. PMID 8641426. Vancouver style error (help)
- McNally EM, Passos-Bueno MR, Bönnemann CG, Vainzof M, de Sá Moreira E, Lidov HG et al. (1996). "Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.". Am. J. Hum. Genet. 59 (5): 1040–7. PMC 1914841. PMID 8900232. Vancouver style error (help)
- McNally EM, Duggan D, Gorospe JR, Bönnemann CG, Fanin M, Pegoraro E et al. (1997). "Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.". Hum. Mol. Genet. 5 (11): 1841–7. doi:10.1093/hmg/5.11.1841. PMID 8923014. Vancouver style error (help)
- 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. Vancouver style error (help)
- Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG et al. (2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.". J. Cell Biol. 148 (1): 115–26. doi:10.1083/jcb.148.1.115. PMC 3207142. PMID 10629222.
- Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM et al. (2000). "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.". Neuromuscul. Disord. 10 (2): 100–7. doi:10.1016/S0960-8966(99)00063-2. PMID 10714584.
- Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K 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.
- Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW 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, Mendell JR, Campbell KP (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.
- 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.
- Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC (2004). "Novel mutations in three patients with LGMD2C with phenotypic differences.". Pediatr. Neurol. 30 (4): 291–4. doi:10.1016/j.pediatrneurol.2003.11.006. PMID 15087111.
- White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH et al. (2006). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.". Hum. Mutat. 26 (1): 59. doi:10.1002/humu.9347. PMID 15954112.
- Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT et al. (2006). "A novel mutation in two families with limb-girdle muscular dystrophy type 2C.". Neurology 67 (1): 167–9. doi:10.1212/01.wnl.0000223600.78363.dd. PMID 16832103.
- Rafii MS, Hagiwara H, Mercado ML, Seo NS, Xu T, Dugan T et al. (2006). "Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development.". J. Cell. Physiol. 209 (2): 439–47. doi:10.1002/jcp.20740. PMC 2929672. PMID 16883602.
External links
- LOVD mutation database: SGCG
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