Biology:OPA3
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[1][2][3]
See also
References
- ↑ "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. Jul 1997. doi:10.1093/hmg/6.4.563. PMID 9097959.
- ↑ "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. Nov 2001. doi:10.1086/324651. PMID 11668429.
- ↑ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80207.
Further reading
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. 2001. doi:10.1101/gr.143000. PMID 11076863.
- "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings". Mol. Genet. Metab. 76 (3): 201–6. 2003. doi:10.1016/S1096-7192(02)00047-1. PMID 12126933. https://zenodo.org/record/1260206.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "[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. 1998. PMID 13703570.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract". J. Med. Genet. 41 (9): e110. 2005. doi:10.1136/jmg.2003.016576. PMID 15342707.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. 2006. doi:10.1093/nar/gkj139. PMID 16381901.
- "[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]". Harefuah 145 (6): 402–3, 472. 2006. PMID 16838891.
External links
- GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3
- OMIM entries on 3-Methylglutaconic Aciduria Type 3
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