The atp6v1c1 gene encodes a subunit of the vacuolar-type h+-atpase (v-atpase) complex, which functions as an atp-dependent proton pump responsible for acidifying intracellular compartments and transpor...[+]

The atp6v1c1 gene encodes a subunit of the vacuolar-type h+-atpase (v-atpase) complex, which functions as an atp-dependent proton pump responsible for acidifying intracellular compartments and transporting protons across the plasma membrane. This proton pumping activity is associated with the pronephros, specifically in intercalated cells of the kidney, and is also involved in osteoclast function for bone resorption, processes documented in neural crest-derived tissues and the developing excretory system. The protein localizes to the vacuolar membrane. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD