ATP6V0A1

The protein is a subunit of the V0 complex of vacuolar ATPase that acidifies intracellular organelles including lysosomes, endosomes, and synaptic vesicles, which is essential for neuronal development and connectivity. Mutations cause developmental and epileptic encephalopathy and neurodevelopmental disorder with epilepsy and brain atrophy through both autosomal dominant and autosomal recessive inheritance patterns. The high constraint scores indicate the gene is highly intolerant to loss-of-function variants, suggesting mutations can cause disease through multiple mechanisms depending on the specific variant type.