Cytochrome c oxidase subunit NDUFA4 (COXFA4) deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- NDUFA4 / NADH:ubiquinone oxidoreductase subunit A4
  7p21.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- NADH:ubiquinone oxidoreductase subunit A4, mitochondrial
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits