OnlineIMD
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