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Protein-coding gene in the species Homo sapiens
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] [ 9]
^ a b c GRCh38: Ensembl release 89: ENSG00000125741 – Ensembl , May 2017^ a b c 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 .
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 .
