OnlineIMD
ATP synthase F1 subunit alpha deficiency
(ATP5F1A deficiency)
Type
Disease
External link(s)
IEMbase
Gene
ATP5F1A
/ ATP Synthase F1 Subunit Alpha
18q21.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP synthase subunit alpha, mitochondrial
Multimer
ATP synthase
Disease group(s)
7.5 Disorders of nuclear encoded ATP synthase subunits and assembly factors