SGCE

From Wikipedia, the free encyclopedia

Sarcoglycan, epsilon

Identifiers

SGCE; ESG; DYT11

External IDs

OMIM: 604149 MGI: 1329042 HomoloGene: 31205

Gene ontology
Molecular Function:	• calcium ion binding • protein binding
Cellular Component:	• cytoskeleton • integral to plasma membrane • sarcoglycan complex • membrane
Biological Process:	• cell-matrix adhesion • muscle development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003919 (mRNA)
NP_003910 (protein)

NM_011360 (mRNA)
NP_035490 (protein)

Location

Chr 7: 94.05 - 94.12 Mb

Chr 6: 4.62 - 4.67 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: SGCE sarcoglycan, epsilon.

[edit] 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.