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Protein Coding Gene : Atcay ataxia, cerebellar, Cayman type

Primary Identifier  MGI:2448730 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  16467
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable kinesin binding activity. Involved in neuron projection development. Located in mitochondrial membrane and neuron projection. Is expressed in gut; nervous system; and sensory organ. Used to study Cayman type cerebellar ataxia. Human ortholog(s) of this gene implicated in Cayman type cerebellar ataxia and cerebellar ataxia. Orthologous to human ATCAY (ATCAY kinesin light chain interacting caytaxin).
PHENOTYPE: Mutants homozygous for a severe allele show progressive impaired coordination and seizures beginning by 10-16 days of age and die by 4 weeks of age. Homozygotes for milder alleles have abnormal gait, slightly diminished body size and reduced male fertility. [provided by MGI curators]
  • synonyms:
  • BB077577,
  • jittery,
  • Atcay,
  • BNIP-H,
  • 3322401A10Rik,
  • MGI:96640,
  • ataxia, cerebellar, Cayman type,
  • hes,
  • MGD-MRK-11529,
  • expressed sequence BB077577,
  • MGD-MRK-10693,
  • MGI:2442176,
  • ji,
  • RIKEN cDNA 3322401A10 gene,
  • hesitant,
  • MGI:2143893

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Genome

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1 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Mouse features --> Functions (GO terms)

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