OnlineIMD
ATP synthase F1 assembly factor 2 deficiency
(ATP5F2 deficiency)
Type
Disease
External link(s)
IEMbase
Gene
ATPAF2
/ ATP synthase mitochondrial F1/F0 complex assembly factor 2
17p11.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP synthase mitochondrial F1/F0 complex assembly factor 2
Disease group(s)
7.5 Disorders of nuclear encoded ATP synthase subunits and assembly factors