ATP6V0A1

The gene ATP6V0A1 encodes the a1 subunit of the V0 domain of the vacuolar H+-ATPase, a critical enzyme for organelle acidification in eukaryotic cells. Known as VPP1, Stv1, or Vph1, this protein is highly expressed in the brain and is involved in processes such as protein sorting, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. ATP6V0A1 mutations have been linked to lysosomal storage diseases, including progressive myoclonus epilepsy and developmental and epileptic encephalopathy, due to impaired lysosomal function and altered signaling pathways.
Recent research has identified the role of ATP6V0A1 in various signaling pathways, including those related to lysosomal homeostasis and neuronal development. The discovery of specific mutations in ATP6V0A1 has led to advancements in diagnostic tools and potential therapeutic strategies, including gene therapy and the development of lysosomal-targeted drugs to restore lysosomal function and alleviate disease symptoms.