Mitochondrial ATP synthase F0 subunit 6 deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- MT-ATP6 / MT-ATP6, Mitochondrially Encoded ATP Synthase Membrane Subunit 6
  mitochondrial
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATP synthase subunit a
Multimer
- ATP synthase
Pathway
- Respiratory chain
Disease group(s)
- 6.1.4 Disorders of mtDNA-encoded ATP synthase subunits
Child entries
- MT-ATP6-related mitochondrial spastic paraplegia