KEGG   VARIANT: 1339v1
Entry
1339v1                      Variant                                
Name
COX6A2 mutation
Gene
COX6A2  cytochrome c oxidase subunit 6A2 [KO:K02266]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602009
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
  Authors
Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I
  Title
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
  Journal
Ann Neurol 86:193-202 (2019)
DOI:10.1002/ana.25517
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