Cytochrome c oxidase subunit 4I1 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- COX4I1 / cytochrome c oxidase subunit 4I1
  16q24.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome c oxidase subunit 4 isoform 1
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits