Gene Symbol | TUBB3 |
Entrez Gene ID | 10381 |
Full Name | tubulin beta 3 class III |
Synonyms | CDCBM,CDCBM1,CFEOM3,CFEOM3A,FEOM3,TUBB4,beta-4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a class III 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 primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]. |
Disorder MIM: | |
Disorder Html: | Fibrosis of extraocular muscles, congenital, 3A, 600638 (3); Cortical dysplasia, complex, with other brain malformations 1, 614039 (3) |