OPA3

OPA3
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
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19q13.32 Start 45,527,767 bp [1] End 45,602,212 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 A3 Start 18,962,259 bp [2] End 18,990,468 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tendon of biceps brachii muscle of thigh apex of heart gonad gastrocnemius muscle left ventricle gingival epithelium stromal cell of endometrium right auricle of heart buccal mucosa cell Top expressed in interventricular septum triceps brachii muscle sternocleidomastoid muscle right ventricle temporal muscle digastric muscle extraocular muscle vastus lateralis muscle ankle epithelium of stomach More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 80207 403187 Ensembl ENSG00000125741 ENSMUSG00000052214 UniProt Q9H6K4 Q505D7 RefSeq (mRNA) NM_001017989 NM_025136 NM_207525 RefSeq (protein) NP_001017989 NP_079412 NP_997408 Location (UCSC) Chr 19: 45.53 – 45.6 Mb Chr 7: 18.96 – 18.99 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Optic atrophy 3 protein is a protein that in humans is encoded by the OPA3 gene. ^{[5] [6] [7]}

Clinical significance

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

• 3-Methylglutaconic aciduria

References

1. GRCh38: Ensembl release 89: ENSG00000125741 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000052214 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)".
8. "Costeff syndrome". Genetics Home Reference. Retrieved 2017-05-28.
9. 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

• 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

• GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3
• OMIM entries on 3-Methylglutaconic Aciduria Type 3