KEGG   VARIANT: 1351v1
Entry
1351v1                      Variant                                
Name
COX8A mutation
Gene
COX8A  cytochrome c oxidase subunit 8A [KO:K02273]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 123870
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:26685157
  Authors
Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS
  Title
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
  Journal
Brain 139:338-45 (2016)
DOI:10.1093/brain/awv357
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