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