Cytochrome c oxidase subunit 6A2 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- COX6A2 / Cytochrome C Oxidase Subunit 6A2
  16p11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome c oxidase subunit 6A, mitochondrial
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits