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Protein Coding Gene : Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1
Primary Identifier  MGI:103286 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  11975
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable ATPase binding activity. Involved in synaptic vesicle lumen acidification. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1).
PHENOTYPE: Mice homozygous for a null allele die before gastrulation. Mice with a p.A512P variant show postnatal lethality with decreased brain size, increased neuronal cell death, ataxia, accumulation of lysosomes and autophagosomes in cortical and pyramidal neurons, and reduced synaptic connectivity. [provided by MGI curators]
  • synonyms:
  • MGI:2144053,
  • MGD-MRK-15405,
  • Vpp1,
  • Vpp-1,
  • V-ATPase a1,
  • MGD-MRK-24167,
  • expressed sequence AA959968,
  • Atp6n1,
  • ATPase, H+ transporting, lysosomal V0 subunit A1,
  • AA959968,
  • Atp6v0a1,
  • vacuolar (endomembrane) proton pump subunit 1, (116 kDa),
  • Atp6n1a,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1A (110/160 kDa),
  • MGD-MRK-15407,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1 (110/160 kDa)
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