SGCG
| Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | SGCG ; A4; DAGA4; DMDA; DMDA1; LGMD2C; MAM; MGC130048; SCARMD2; SCG3; TYPE | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 194 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE SGCG 207302 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, gamma (35kDa dystrophin-associated glycoprotein), also known as SGCG, is a human gene.[1]
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).[1]
References
Further reading
- Noguchi S, McNally EM, Ben Othmane K; et al. (1995). "Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy". Science. 270 (5237): 819–22. PMID 7481775.
- Ben Othmane K, Speer MC, Stauffer J; et al. (1995). "Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)". Am. J. Hum. Genet. 57 (3): 732–4. PMID 7668303.
- Jorde LB, Watkins WS, Viskochil D; et al. (1993). "Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping". Am. J. Hum. Genet. 53 (5): 1038–50. PMID 8105688.
- Jung D, Leturcq F, Sunada Y; 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. PMID 8641426.
- McNally EM, Passos-Bueno MR, Bönnemann CG; et al. (1996). "Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation". Am. J. Hum. Genet. 59 (5): 1040–7. PMID 8900232.
- McNally EM, Duggan D, Gorospe JR; et al. (1997). "Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy". Hum. Mol. Genet. 5 (11): 1841–7. PMID 8923014.
- Piccolo F, Jeanpierre M, Leturcq F; et al. (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. PMID 8968757.
- 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.
- Thompson TG, Chan YM, Hack AA; et al. (2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. 148 (1): 115–26. PMID 10629222.
- Nowak KJ, Walsh P, Jacob RL; et al. (2000). "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion". Neuromuscul. Disord. 10 (2): 100–7. PMID 10714584.
- 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.
- 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.
- 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.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Vermeer S, Verrips A, Willemsen MA; et al. (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.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- White SJ, Uitte de Willige S, Verbove D; 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; 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; 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. PMID 16883602.
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