ATP6V0C encodes the c-subunit in the membrane bound integral domain of the V0 domain of vacuolar ATPase (V-ATPase). This complex acidifies organelles by pumping protons across membranes. This creates the proton/pH gradient allowing for membrane trafficking. Experiments on zebrafish ortholog showed that ATP6V0C is involved in neurotransmitter storage/secretion and neuronal excitability. ATP6V0C is highly expressed in the brain cortex across whole lifespan.
27 individuals with heterozygous ATP6V0C variants have been reported in literature. Most variants are missense substitutions (22/27). Frameshift variants and stop-loss variants are also reported.
ATP6V0C