KEGG   VARIANT: 4976v1
Entry
4976v1                      Variant                                
Name
OPA1 mutation
Type
Loss of function
Gene
OPA1  OPA1 mitochondrial dynamin like GTPase [KO:K17079]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605290
Network
nt06536  Mitophagy
Disease
H00469  Mitochondrial DNA depletion syndrome
H01020  Optic atrophy
Reference
  Authors
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J
  Title
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
  Journal
Neurology 88:131-142 (2017)
DOI:10.1212/WNL.0000000000003491
Reference
  Authors
Spiegel R, Saada A, Flannery PJ, Burte F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P
  Title
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
  Journal
J Med Genet 53:127-31 (2016)
DOI:10.1136/jmedgenet-2015-103361
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