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Protein Coding Gene : Dab1 disabled 1

Primary Identifier  MGI:108554 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  13131
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable phosphatidylinositol 3-kinase binding activity. Involved in lateral motor column neuron migration; regulation of synapse maturation; and ventral spinal cord development. Acts upstream of or within several processes, including adult walking behavior; negative regulation of neurogenesis; and nervous system development. Located in perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 37. Orthologous to human DAB1 (DAB adaptor protein 1).
PHENOTYPE: Homozygous null display unstable gait and whole-body tremor with a hypoplastic cerebellum devoid of folia, a probable consequence of defective neuronal migration. [provided by MGI curators]
  • synonyms:
  • MGI:98245,
  • yot,
  • MGI:2444714,
  • MGI:1196335,
  • yotari,
  • C630028C02Rik,
  • MGD-MRK-14318,
  • MGD-MRK-37598,
  • scrambler,
  • MGD-MRK-14330,
  • expressed sequence AI956902,
  • scr,
  • Dab1,
  • AI956902,
  • RIKEN cDNA C630028C02 gene,
  • scm,
  • MGI:2140405,
  • disabled 1

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4 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

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