Cytochrome c oxidase subunit 6A1 deficiency

Synonym(s)
- Recessive intermediate Charcot-Marie-Tooth disease type D
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- COX6A1 / Cytochrome C Oxidase Subunit 6A1
  12q24.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome c oxidase subunit 6A1, mitochondrial
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits