Cytochrome c oxidase subunit 4I2 deficiency

Synonym(s)
- Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- COX4I2 / Cytochrome C Oxidase Subunit 4I2
  20q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cytochrome c oxidase subunit 4 isoform 2
Multimer
- Respiratory chain complex 4
Disease group(s)
- 7.4.1 Disorders of nuclear encoded complex IV subunits