P00846

MT-ATP6 also known as ATP6, ATPASE6 is an inner mitochondrial membrane protein and is a component of Complex V, which produces ATP from ADP in the presence of proton gradient across the membrane. F-type ATPases have 2 components, CF1 - the catalytic core - and CF0- the membrane proton channel. The CF1 catalytic core contains five subunits: alpha3, beta3, gamma1, delta1, epsilon1 and CF0 has three main subunits known as a, b, and c. Together they form a rotary motor. During catalysis, ATP synthesis in the catalytic domain of F1 is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Defects in MT-ATP6 gene cause multiple mitochondrial diseases, such as Leber hereditary optic neuropathy (LHON), which is characterized by acute and subacute loss of central vision due to optic nerve dysfunction. Some defects also lead to mitochondrial complex V deficiency that leads to neuropathy, ataxia, and hypertrophic cardiomyopathy.