SGCG
| SGCG | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 13: 23.18 – 23.33 Mb | Chr 14: 61.46 – 61.5 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Gamma-sarcoglycan is a
muscle fibres,[10] and are essential for the preservation of the integrity of the muscle cell membrane.[11]
Function
Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with
limb-girdle muscular dystrophy, type 2C (LGMD2C).[6]
Structure
Gene
Human SGCG gene maps to
exons.[12]
Protein
Gamma-sarcoglycan is a type II
amino acids. It has a 35 amino acid intracellular N-terminal region, a 25 amino acid single transmembrane domain, and a 231 amino acid extra-cellular C-terminus.[8]
Clinical significance
limb girdle muscular dystrophies (LGMDs) caused by mutations in any of the four sarcoglycan genes: α (LGMD2D), β (LGMD2E), γ (LGMD2C) and δ (LGMD2F).[7] Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder that segregates with microsatellite markers at γ-sarcoglycan gene. Mutations in the γ-sarcoglycan gene were first described in the Maghreb countries of North Africa,[13] where γ-sarcoglycanopathy has a higher than usual incidence. One common mutation, Δ-521T, which causes a severe phenotype, occurs both in the Maghreb population and in other countries.[12] A Cys283Tyr mutation has been identified in the Gypsy population causing a severe phenotype and a Leu193Ser mutation which causes a mild phenotype.[5][14]
Interactions
SGCG has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102683 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035296 - Ensembl, May 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.
- ^ PMID 8968757.
- ^ a b "Entrez Gene: SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)".
- ^ S2CID 84713401.
- ^ S2CID 54410727.
- PMID 8968750.
- PMID 9405466.
- PMID 9856984.
- ^ PMID 8923014.
- PMID 8071965.
- S2CID 33437157.
- S2CID 86353802.
- PMID 10629222.
Further reading
- Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E (1995). "Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy". Science. 270 (5237): 819–22. S2CID 84713401.
- Ben Othmane K, Speer MC, Stauffer J, Blel S, Middleton L, Ben Hamida C, Etribi A, Loeb D, Hentati F, Roses AD (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, 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. PMID 8105688.
- Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP (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, Vainzof M, de Sá Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM (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, Bönnemann CG, Fanin M, Pegoraro E, Lidov HG, Noguchi S, Ozawa E, Finkel RS, Cruse RP, Angelini C, Kunkel LM, Hoffman EP (1997). "Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy". Hum. Mol. Genet. 5 (11): 1841–7. 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. PMID 9864373.
- Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S, Kunkel LM (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, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG (2000). "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion". Neuromuscul. Disord. 10 (2): 100–7. S2CID 54410727.
- Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E (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, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP (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, 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. 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.
- 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. PMID 15087111.
- White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, den Dunnen JT (2006). "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Hum. Mutat. 26 (1): 59. PMID 15954112.
- Duncan DR, Kang PB, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM (2006). "A novel mutation in two families with limb-girdle muscular dystrophy type 2C". Neurology. 67 (1): 167–9. S2CID 35310350.
- Rafii MS, Hagiwara H, Mercado ML, Seo NS, Xu T, Dugan T, Owens RT, Hook M, McQuillan DJ, Young MF, Fallon JR (2006). "Biglycan binds to alpha- and gamma-sarcoglycan and regulates their expression during development". J. Cell. Physiol. 209 (2): 439–47. PMID 16883602.
External links
- LOVD mutation database: SGCG