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TUBB1 encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.
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Protein Aliases: tbb1; tubulin beta; Tubulin beta-1 chain; tubulin, beta 1 class VI
Gene Aliases: 2810484G07Rik; M(beta)1; TUBB1
UniProt ID: (Human) Q9H4B7, (Mouse) A2AQ07
Entrez Gene ID: (Dog) 485950, (Human) 81027, (Mouse) 545486, (Rat) 679312
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