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Protein Coding Gene : Tubb1 tubulin, beta 1 class VI
Primary Identifier  MGI:107814 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  545486
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

A structural constituent of cytoskeleton. Involved in several processes, including platelet aggregation; platelet formation; and thyroid hormone transport. Acts upstream of or within spindle assembly. Located in microtubule. Is expressed in dorsal root ganglion; liver; and spinal cord. Human ortholog(s) of this gene implicated in autosomal dominant macrothrombocytopenia TUBB1-related. Orthologous to human TUBB1 (tubulin beta 1 class VI).
PHENOTYPE: Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. [provided by MGI curators]
  • synonyms:
  • Tubb1,
  • RIKEN cDNA 2810484G07 gene,
  • MGI:1920067,
  • 2810484G07Rik,
  • tubulin, beta 1 class VI,
  • MGD-MRK-36391
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