Optic atrophy 1

Optic atrophy 1 (autosomal dominant)
Identifiers
Symbols	OPA1 ; FLJ12460; KIAA0567; NPG; NTG; largeG
External IDs	Template:OMIM5 Template:MGI HomoloGene: 14618
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE OPA1 212213 x at tn.png
File:PBB GE OPA1 212214 at tn.png
File:PBB GE OPA1 214306 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Optic atrophy 1 (autosomal dominant), also known as OPA1, is a human gene.

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene.

Further reading

• Olichon A, Guillou E, Delettre C; et al. (2006). "Mitochondrial dynamics and disease, OPA1". Biochim. Biophys. Acta. 1763 (5–6): 500–9. doi:10.1016/j.bbamcr.2006.04.003. PMID 16737747.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pawlikowska P, Orzechowski A (2007). "[Role of transmembrane GTPases in mitochondrial morphology and activity]". Postepy Biochem. 53 (1): 53–9. PMID 17718388.
• Votruba M, Moore AT, Bhattacharya SS (1998). "Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees". Hum. Genet. 102 (1): 79–86. PMID 9490303.CS1 maint: Multiple names: authors list (link)
• Nagase T, Ishikawa K, Miyajima N; et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. PMID 9628581.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Johnston RL, Seller MJ, Behnam JT; et al. (1999). "Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies". Ophthalmology. 106 (1): 123–8. doi:10.1016/S0161-6420(99)90013-1. PMID 9917792.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Delettre C, Lenaers G, Griffoin JM; et al. (2000). "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy". Nat. Genet. 26 (2): 207–10. doi:10.1038/79936. PMID 11017079.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Alexander C, Votruba M, Pesch UE; et al. (2000). "OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28". Nat. Genet. 26 (2): 211–5. doi:10.1038/79944. PMID 11017080.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Toomes C, Marchbank NJ, Mackey DA; et al. (2001). "Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy". Hum. Mol. Genet. 10 (13): 1369–78. PMID 11440989.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thiselton DL, Alexander C, Morris A; et al. (2001). "A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect". Hum. Genet. 109 (5): 498–502. doi:10.1007/s004390100600. PMID 11735024.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Delettre C, Griffoin JM, Kaplan J; et al. (2002). "Mutation spectrum and splicing variants in the OPA1 gene". Hum. Genet. 109 (6): 584–91. doi:10.1007/s00439-001-0633-y. PMID 11810270.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aung T, Ocaka L, Ebenezer ND; et al. (2002). "A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene". Hum. Genet. 110 (1): 52–6. doi:10.1007/s00439-001-0645-7. PMID 11810296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Misaka T, Miyashita T, Kubo Y (2002). "Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology". J. Biol. Chem. 277 (18): 15834–42. doi:10.1074/jbc.M109260200. PMID 11847212.CS1 maint: Multiple names: authors list (link)
• Thiselton DL, Alexander C, Taanman JW; et al. (2002). "A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy". Invest. Ophthalmol. Vis. Sci. 43 (6): 1715–24. PMID 12036970.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aung T, Ocaka L, Ebenezer ND; et al. (2002). "Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma". Hum. Genet. 110 (5): 513–4. doi:10.1007/s00439-002-0711-9. PMID 12073024.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olichon A, Emorine LJ, Descoins E; et al. (2002). "The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space". FEBS Lett. 523 (1–3): 171–6. PMID 12123827.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marchbank NJ, Craig JE, Leek JP; et al. (2002). "Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease". J. Med. Genet. 39 (8): e47. PMID 12161614.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Satoh M, Hamamoto T, Seo N; et al. (2003). "Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria". Biochem. Biophys. Res. Commun. 300 (2): 482–93. PMID 12504110.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olichon A, Baricault L, Gas N; et al. (2003). "Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis". J. Biol. Chem. 278 (10): 7743–6. doi:10.1074/jbc.C200677200. PMID 12509422.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Shimizu S, Mori N, Kishi M; et al. (2003). "A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy". Am. J. Ophthalmol. 135 (2): 256–7. PMID 12566046.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)