The atp5pf gene encodes a subunit of mitochondrial ATP synthase, functioning in the catalytic core of the F1 complex to facilitate ATP production through oxidative phosphorylation. The protein is local...[+]

The atp5pf gene encodes a subunit of mitochondrial ATP synthase, functioning in the catalytic core of the F1 complex to facilitate ATP production through oxidative phosphorylation. The protein is localized to the mitochondria. Expression patterns are documented in early developmental stages including the oocyte, cleaving blastula, gastrula, neurula, and tailbud, with later expression observed in organs such as the brain, eye, heart, kidney, and liver. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD