Gene Symbol | TUBA8 |
Entrez Gene ID | 51807 |
Full Name | tubulin alpha 8 |
Synonyms | CDCBM8,TUBAL2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Cortical dysplasia, complex, with other brain malformations 8, 613180 (3) |