KEGG   VARIANT: 1353v1
Entry
1353v1                      Variant                                
Name
COX11 mutation
Gene
COX11  cytochrome c oxidase copper chaperone COX11 [KO:K02258]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603648
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:36030551
  Authors
Rius R, Bennett NK, Bhattacharya K, Riley LG, Yuksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J
  Title
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
  Journal
Hum Mutat 43:1970-1978 (2022)
DOI:10.1002/humu.24453
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