ATP synthase F1 subunit epsilon deficiency

(ATP5F1E deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- ATP5F1E / ATP synthase F1 subunit epsilon
  20q13.32
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATP synthase subunit epsilon, mitochondrial
Multimer
- ATP synthase
Disease group(s)
- 7.5 Disorders of nuclear encoded ATP synthase subunits and assembly factors