OPA3

From Wikipedia, the free encyclopedia


Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Identifiers
Symbol(s) OPA3; FLJ22187; FLJ25932; MGA3; MGC75494
External IDs OMIM: 606580 MGI: 2686271 HomoloGene: 57022
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 80207 403187
Ensembl ENSG00000125741 ENSMUSG00000052214
Uniprot Q9H6K4 n/a
Refseq NM_001017989 (mRNA)
NP_001017989 (protein)		 NM_207525 (mRNA)
NP_997408 (protein)
Location Chr 19: 50.72 - 50.78 Mb Chr 7: 18.39 - 18.41 Mb
Pubmed search [1] [2]

Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), also known as OPA3, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia).

[edit] Further reading

  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548. 
  • Nystuen A, Costeff H, Elpeleg ON, et al. (1997). "Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.". Hum. Mol. Genet. 6 (4): 563-9. PMID 9097959. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863. 
  • Anikster Y, Kleta R, Shaag A, et al. (2002). "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.". Am. J. Hum. Genet. 69 (6): 1218-24. PMID 11668429. 
  • Kleta R, Skovby F, Christensen E, et al. (2003). "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.". Mol. Genet. Metab. 76 (3): 201-6. PMID 12126933. 
  • 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. 
  • GARCIN R, RAVERDY P, DELTHIL S, et al. (1998). "[On a heredo-familial disease combining cataract, optic atrophy, extrapyramidal symptoms and certain defects of Friedreich's disease. (Its nosological position in relation to the Behr's syndrome, the Marinesco-Sjogren syndrome and Friedreich's disease with ocular symptoms.]". Rev. Neurol. (Paris) 104: 373-9. PMID 13703570. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Reynier P, Amati-Bonneau P, Verny C, et al. (2005). "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.". J. Med. Genet. 41 (9): e110. doi:10.1136/jmg.2003.016576. PMID 15342707. 
  • 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. 
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136-44. doi:10.1101/gr.2576704. PMID 15489336. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55-65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMID 16381901. 
  • Fink N, Mouallem M (2006). "[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]". Harefuah 145 (6): 402-3, 472. PMID 16838891. 
 This article on a gene on chromosome 19 is a stub. You can help Wikipedia by expanding it.