Gene Symbol | TUBB2A |
Entrez Gene ID | 7280 |
Full Name | tubulin beta 2A class IIa |
Synonyms | CDCBM5,TUBB,TUBB2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]. |
Disorder MIM: | |
Disorder Html: | Cortical dysplasia, complex, with other brain malformations 5, 615763 (3) |