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Protein Coding Gene : Vac14 Vac14 homolog (S. cerevisiae)
Primary Identifier  MGI:2157980 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  234729
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable identical protein binding activity and kinase activator activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization. Is active in presynaptic endosome. Is expressed in cerebral cortex ventricular layer; cortical plate; embryo; and extraembryonic component. Human ortholog(s) of this gene implicated in striatonigral degeneration. Orthologous to human VAC14 (VAC14 component of PIKFYVE complex).
PHENOTYPE: Mice homozygous for a null mutation display early postnatal lethality with lesions in multiple regions of the brain. Mice homozygous for a hypomorphic allele exhibit postnatal lethality, spongiform degeneration, enlarged brain ventricles and coat color dilution. [provided by MGI curators]
  • synonyms:
  • MGI:2159426,
  • infantile gliosis,
  • Vac14,
  • Tax1 (human T-cell leukemia virus type I) binding protein 2,
  • MGI:107290,
  • MGD-MRK-35755,
  • MGC:38230,
  • D8Wsu151e,
  • Vac14 homolog (S. cerevisiae),
  • MGI:2384587,
  • ingls,
  • expressed sequence AA959718,
  • MGI:2142449,
  • Trx,
  • BC032215,
  • Tax1bp2,
  • AA959718,
  • cDNA sequence BC032215,
  • DNA segment, Chr 8, Wayne State University 151, expressed
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