Aliases for TUBB1 Gene
External Ids for TUBB1 Gene
Previous GeneCards Identifiers for TUBB1 Gene
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]
GeneCards Summary for TUBB1 Gene
TUBB1 (Tubulin Beta 1 Class VI) is a Protein Coding gene. Diseases associated with TUBB1 include Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are G-Beta Gamma Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.
UniProtKB/Swiss-Prot Summary for TUBB1 Gene
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).
Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).