KEGG   VARIANT: 4697v1
Entry
4697v1                      Variant                                
Name
NDUFA4 mutation
Gene
NDUFA4  NDUFA4 mitochondrial complex associated [KO:K03948]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603833
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:23746447
  Authors
Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG
  Title
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
  Journal
Cell Rep 3:1795-805 (2013)
DOI:10.1016/j.celrep.2013.05.005
LinkDB

DBGET integrated database retrieval system