OPA3
| OPA3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | OPA3, MGA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), outer mitochondrial membrane lipid metabolism regulator, OPA3 outer mitochondrial membrane lipid metabolism regulator, outer mitochondrial membrane lipid metabolism regulator OPA3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606580; MGI: 2686271; HomoloGene: 57022; GeneCards: OPA3; OMA:OPA3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene.[5][6][7]
Clinical significance
[edit]Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene.[8] In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature.[9]
See also
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000125741 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000052214 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, et al. (April 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". Human Molecular Genetics. 6 (4): 563–569. doi:10.1093/hmg/6.4.563. PMID 9097959.
- ↑ Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (December 2001). "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". American Journal of Human Genetics. 69 (6): 1218–1224. doi:10.1086/324651. PMC 1235533. PMID 11668429.
- ↑ "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".
- ↑ "Costeff syndrome". Genetics Home Reference. Retrieved 2017-05-28.
- ↑ Wells T, Davies JR, Guschina IA, Ball DJ, Davies JS, Davies VJ, et al. (November 2012). "Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome". Human Molecular Genetics. 21 (22): 4836–4844. doi:10.1093/hmg/dds315. PMID 22869679.
Further reading
[edit]- Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y (July 2002). "3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings". Molecular Genetics and Metabolism. 76 (3): 201–206. doi:10.1016/S1096-7192(02)00047-1. PMID 12126933.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Garcin R, Raverdy P, Delthil S, Man HX, Chimenes H (May 1961). "[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]". Revue Neurologique. 104: 373–379. PMID 13703570.
- Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, et al. (September 2004). "OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract". Journal of Medical Genetics. 41 (9): e110. doi:10.1136/jmg.2003.016576. PMC 1735897. PMID 15342707.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–D418. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Fink N, Mouallem M (June 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.
External links
[edit]- GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3
- OMIM entries on 3-Methylglutaconic Aciduria Type 3
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