If you're working in this space, connect with us! #vATPase #GetToKnowMore #DEE #Epilepsy #Neurology

Understanding the genetic complexity of v-ATPase DEE is crucial for diagnosis and treatment. See the gene comparison table: ATP6V0A1, ATP6V1A, ATP6V0C. #vATPase #Neurology #RareDisease #Diagnosis #GetToKnowMore

Mutations in v-ATPase genes can affect various organs and systems, including the brain (neurological disorders), kidneys (renal tubular acidosis), bones (osteopetrosis), immune system (immune deficiencies) and others. #GetToKnowMore

v-ATPase is a multi-subunit enzyme complex, a proton pump, that is expressed in various cellular membranes throughout the body, including lysosomes, endosomes, and plasma membranes #GetToKnowMore