SGCE
| Sarcoglycan, epsilon | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | SGCE ; ESG; DYT11 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 31205 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE SGCE 204688 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, epsilon, also known as SGCE, is a human gene.[1]
The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM][1]
References
Further reading
- Ettinger AJ, Feng G, Sanes JR (1998). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". J. Biol. Chem. 272 (51): 32534–8. PMID 9405466.
- McNally EM, Ly CT, Kunkel LM (1998). "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. 422 (1): 27–32. PMID 9475163.
- Nygaard TG, Raymond D, Chen C; et al. (1999). "Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31". Ann. Neurol. 46 (5): 794–8. PMID 10554001.
- 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.
- Zimprich A, Grabowski M, Asmus F; et al. (2001). "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome". Nat. Genet. 29 (1): 66–9. doi:10.1038/ng709. PMID 11528394.
- 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. PMID 12060343.
- Asmus F, Zimprich A, Tezenas Du Montcel S; et al. (2002). "Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype". Ann. Neurol. 52 (4): 489–92. doi:10.1002/ana.10325. PMID 12325078.
- Klein C, Liu L, Doheny D; et al. (2002). "Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations". Ann. Neurol. 52 (5): 675–9. doi:10.1002/ana.10358. PMID 12402271.
- Müller B, Hedrich K, Kock N; et al. (2003). "Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia". Am. J. Hum. Genet. 71 (6): 1303–11. PMID 12444570.
- 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.
- Smallwood A, Papageorghiou A, Nicolaides K; et al. (2004). "Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta". Biol. Reprod. 69 (1): 286–93. doi:10.1095/biolreprod.102.013078. PMID 12620933.
- Grabowski M, Zimprich A, Lorenz-Depiereux B; et al. (2003). "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted". Eur. J. Hum. Genet. 11 (2): 138–44. doi:10.1038/sj.ejhg.5200938. PMID 12634861.
- Maréchal L, Raux G, Dumanchin C; et al. (2004). "Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation". Am. J. Med. Genet. B Neuropsychiatr. Genet. 119 (1): 114–7. doi:10.1002/ajmg.b.10062. PMID 12707948.
- Foncke EM, Klein C, Koelman JH; et al. (2004). "Hereditary myoclonus-dystonia associated with epilepsy". Neurology. 60 (12): 1988–90. PMID 12821748.
- Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
- Kock N, Kasten M, Schüle B; et al. (2004). "Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation". Mov. Disord. 19 (2): 231–4. doi:10.1002/mds.10635. PMID 14978685.
- Nishiyama A, Endo T, Takeda S, Imamura M (2004). "Identification and characterization of epsilon-sarcoglycans in the central nervous system". Brain Res. Mol. Brain Res. 125 (1–2): 1–12. doi:10.1016/j.molbrainres.2004.01.012. PMID 15193417.
- Asmus F, Schoenian S, Lichtner P; et al. (2005). "Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome". Neurogenetics. 6 (1): 55–6. doi:10.1007/s10048-004-0206-z. PMID 15627203.
- Valente EM, Edwards MJ, Mir P; et al. (2005). "The epsilon-sarcoglycan gene in myoclonic syndromes". Neurology. 64 (4): 737–9. doi:10.1212/01.WNL.0000151979.68010.9B. PMID 15728306.
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