Gene Symbol | TUBB1 |
Entrez Gene ID | 81027 |
Full Name | tubulin beta 1 class VI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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.[provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3) |