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FLASH GENE
Symbol ATP6V0A1 contributors: mct/npt/pgu - updated : 12-06-2024
HGNC name ATPase, H+ transporting, lysosomal V0 subunit a1
HGNC id 865
ASSOCIATED DISORDERS
corresponding disease(s) DEE104 , NEDEBA
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • global knockout of ATP6V0A1 in mice causes embryonic lethality, whereas pyramidal neuron-specific knockout resulted in neuronal cell death with impaired spatial and learning memory