The gene atp5pb encodes an enzyme, an f-type atpase, which is a subunit of the mitochondrial membrane atp synthase complex involved in oxidative phosphorylation for ATP production. The protein localize...[+]

The gene atp5pb encodes an enzyme, an f-type atpase, which is a subunit of the mitochondrial membrane atp synthase complex involved in oxidative phosphorylation for ATP production. The protein localizes to the mitochondrion. Expression is documented in the brain, including the telencephalon, diencephalon, midbrain, hindbrain, and spinal cord, as well as in the eye, neural tube, and pronephros during development. [-]

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