Optic atrophy 1

Optic atrophy 1 (autosomal dominant)
Identifiers
Symbols	OPA1; FLJ12460; KIAA0567; MGM1; NPG; NTG; largeG
External IDs	OMIM: 605290 MGI: 1921393 HomoloGene: 14618 GeneCards: OPA1 Gene
Gene Ontology Molecular function • nucleotide binding • magnesium ion binding • GTPase activity • protein binding • GTP binding Cellular component • mitochondrion • mitochondrial outer membrane • mitochondrial inner membrane • mitochondrial intermembrane space • membrane • integral to membrane • mitochondrial crista • dendrite Biological process • mitochondrial fission • GTP catabolic process • apoptosis • mitochondrion organization • inner mitochondrial membrane organization • visual perception • mitochondrial fusion • mitochondrial fusion • axon transport of mitochondrion • positive regulation of anti-apoptosis • response to stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4976	74143
Ensembl	ENSG00000198836	ENSMUSG00000038084
UniProt	O60313	P58281
RefSeq (mRNA)	NM_015560.2	XM_001000561
RefSeq (protein)	NP_056375.2	XP_001000561
Location (UCSC)	Chr 3: 193.31 – 193.42 Mb	Chr 16: 29.58 – 29.65 Mb
PubMed search	[1]	[2]

Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene.^[1][2]

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.^[2]

See also

• Kjer's optic neuropathy

References

1. ^ Votruba M, Moore AT, Bhattacharya SS (Mar 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. doi:10.1007/s004390050657. PMID 9490303. 
2. ^ ^{a b} "Entrez Gene: OPA1 optic atrophy 1 (autosomal dominant)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4976. 

External links

• GeneReview/NCBI/NIH/UW entry on Optic Atrophy Type 1

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. 
• Pawlikowska P, Orzechowski A (2007). "[Role of transmembrane GTPases in mitochondrial morphology and activity]". Postepy Biochem. 53 (1): 53–9. PMID 17718388. 
• 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. doi:10.1093/dnares/5.1.31. PMID 9628581. 
• 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. 
• 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. 
• 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. 
• 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. doi:10.1093/hmg/10.13.1369. PMID 11440989. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. 
• 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. doi:10.1016/S0014-5793(02)02985-X. PMID 12123827. 
• 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. doi:10.1136/jmg.39.8.e47. PMC 1735190. PMID 12161614. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735190. 
• 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. doi:10.1016/S0006-291X(02)02874-7. PMID 12504110. 
• 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. 
• 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. doi:10.1016/S0002-9394(02)01929-3. PMID 12566046. 

This protein-related article is a stub. You can help Wikipedia by expanding it.v · Categories: Human proteins Protein stubs Wikimedia Foundation. 2010. Игры ⚽ Поможем решить контрольную работу N-myristoyltransferase 1 Neajlovel River Look at other dictionaries: optic atrophy — n degeneration of the optic nerve * * * degeneration of the optic nerve. It may be secondary to disease within the eye or it may follow damage to the nerve itself resulting from injury or inflammation. It is visible as pallor of the optic nerve… …   Medical dictionary Optic atrophy — Infobox Disease Name = PAGENAME Caption = The left optic nerve and the optic tracts. DiseasesDB = 9241 ICD10 = ICD10|H|47|2|h|46 ICD9 = ICD9|377.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D009896 Optic atrophy is the… …   Wikipedia optic atrophy — ▪ pathology       degeneration of the optic nerve (the second cranial nerve) due to direct or indirect damage to a particular type of retinal (retina) cell, called ganglion cells, whose axonal (axon) projections collectively make up the optic… …   Universalium optic atrophy — degeneration of the optic nerve. It may be secondary to disease within the eye or it may follow damage to the nerve itself resulting from injury or inflammation. It is visible as pallor of the optic nerve as viewed inside the eye with an… …   The new mediacal dictionary optic atrophy — noun : degeneration of the optic nerve …   Useful english dictionary primary optic atrophy — optic atrophy in which the optic disk is characterized by sharp margins, enlarged physiologic cup, enhanced visibility of the lamina cribrosa, and a white color. Severe primary optic atrophy secondary to multiple episodes of optic neuritis …   Medical dictionary secondary optic atrophy — optic atrophy in which the optic disk is characterized by blurred margins, poor visibility of the lamina cribrosa, filling in of the physiologic cup, and gray white glial tissue on its surface and along its blood vessels; called also gray a …   Medical dictionary Mental retardation with optic atrophy, deafness & seizures — A disorder first reported in 1999 by Gustavson and colleagues as a newly recognized X linked mental retardation syndrome. In the family they studied there were 7 male children in 2 generations with the syndrome. The affected males were… …   Medical dictionary Leber hereditary optic atrophy — Leber optic atrophy see under neuropathy …   Medical dictionary Optic neuropathy — Classification and external resources ICD 10 H46 The optic nerve contains axons of nerve cells that emerge from the retina, leave the eye at the optic disc, and go to the visual cortex where input from the eye is processed into vision. There are… …   Wikipedia 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”