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| 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 | OMIM: 608896 MGI: 1346524 HomoloGene: 194 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| More reference expression data | ||||||||||||||
| Orthologs | ||||||||||||||
| Species | Human | Mouse | ||||||||||||
| Entrez | 6445 | 24053 | ||||||||||||
| Ensembl | ENSG00000102683 | ENSMUSG00000035296 | ||||||||||||
| UniProt | Q13326 | Q9EQ83 | ||||||||||||
| RefSeq | NM_000231 (mRNA) | NM_011892 (mRNA) | ||||||||||||
| NP_000222 (protein) | NP_036022 (protein) | |||||||||||||
| Location | Chr 13: 22.65 - 22.8 Mb |
Chr 14: 60.18 - 60.21 Mb |
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| PubMed search | [1] | [2] | ||||||||||||
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene.[1][2]
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, Dode C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tome FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC (Mar 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.
- ^ a b "Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6445.
- ^ Guyon, Jeffrey R; Kudryashova Elena, Potts Alexandra, Dalkilic Isin, Brosius Melissa A, Thompson Terri G, Beckmann Jacques S, Kunkel Louis M, Spencer Melissa J (Oct. 2003). "Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans". Muscle Nerve (United States) 28 (4): 472-83. doi:. ISSN 0148-639X. PMID 14506720.
- ^ Thompson, T G; Chan Y M, Hack A A, Brosius M, Rajala M, Lidov H G, McNally E M, Watkins S, Kunkel L M (Jan. 2000). "Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein". J. Cell Biol. (UNITED STATES) 148 (1): 115-26. ISSN 0021-9525. PMID 10629222.
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. doi:. 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. doi:. 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. doi:. PMID 8923014.
- 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:. 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. doi:. 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. doi:. 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. doi:. 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. doi:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. PMID 16883602.
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