OnlineIMD
ATP synthase F1 subunit beta deficiency
(ATP5F1B deficiency)
Type
Disease
Gene
ATP5F1B
/ ATP Synthase F1 Subunit Beta
12q13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ATP synthase subunit beta, mitochondrial
Multimer
ATP synthase
Disease group(s)
7.5 Disorders of nuclear encoded ATP synthase subunits and assembly factors