Gene Symbol | TUBB |
Entrez Gene ID | 203068 |
Full Name | tubulin beta class I |
Synonyms | CDCBM6,CSCSC1,M40,OK/SW-cl.56,TUBB1,TUBB5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Cortical dysplasia, complex, with other brain malformations 6, 615771 (3); Symmetric circumferential skin creases, congenital, 1, 156610 (3) |