Optic atrophy 1

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Optic atrophy 1 (autosomal dominant)
Identifiers
Symbols OPA1 ; MGM1; NPG; NTG; largeG
External IDs OMIM605290 MGI1921393 HomoloGene14618 GeneCards: OPA1 Gene
EC number 3.6.5.5
RNA expression pattern
PBB GE OPA1 212213 x at tn.png
PBB GE OPA1 212214 at tn.png
PBB GE OPA1 214306 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4976 74143
Ensembl ENSG00000198836 ENSMUSG00000038084
UniProt O60313 P58281
RefSeq (mRNA) NM_015560 NM_001199177
RefSeq (protein) NP_056375 NP_001186106
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[edit]

References[edit]

  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)". 

External links[edit]

Further reading[edit]

  • 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, Morris A, 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, Morris A, 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. 
  • 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. 
  • 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.