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Protein Coding Gene : Tubb5 tubulin, beta 5 class I
Primary Identifier  MGI:107812 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  22154
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

A structural constituent of cytoskeleton. Involved in regulation of synapse organization. Acts upstream of or within spindle assembly. Located in microtubule and nucleus. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and retina. Used to study microcephaly. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 6 and congenital symmetric circumferential skin creases 1. Orthologous to human TUBB (tubulin beta class I).
PHENOTYPE: Mice homozygous for a conditional knock-in or knock-out allele exhibit microcephaly due to upper-layer loss, delayed cell cycle progression and apoptosis of neurons. [provided by MGI curators]
  • synonyms:
  • MGI:2146752,
  • RIKEN cDNA B130022C14 gene,
  • expressed sequence AA408537,
  • MGI:2442353,
  • MGD-MRK-36389,
  • tubulin, beta 5 class I,
  • B130022C14Rik,
  • expressed sequence AI596182,
  • MGI:2146893,
  • AA408537,
  • Tubb5,
  • AI596182
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1 Involved In Mutations

Trail: ProteinCodingGene

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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.

Features --> Overlapping features

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Interactions

19 Pathways

Trail: ProteinCodingGene

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Gene --> Protein-Protein Interactions

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Mouse features --> Human diseases

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