OnlineIMD
ATP synthase F1 subunit O deficiency
(ATP5PO deficiency)
Type
Disease
External link(s)
IEMbase
Gene
ATP5PO
/ ATP synthase peripheral stalk subunit
21q22.11
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP synthase F0 subunit O
Multimer
ATP synthase
Disease group(s)
7.5 Disorders of nuclear encoded ATP synthase subunits and assembly factors