| TUBB3 |
| LOCUS ID | 10381 | ||||||||||
| GENE_SYMBOL | TUBB3 | ||||||||||
| GENE NAME | tubulin beta 3 class | ||||||||||
| SYNONYMNS | CDCBM, FEOM3, TUBB4, CDCBM1, CFEOM3, beta-4, CFEOM3A | ||||||||||
| CHROMOSOME | 16 | ||||||||||
| HOMOLOGENE ID | 68503 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 maintence. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alterte splicing results in multiple transcript variants. A pseudogene of this gene |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Retinopathy | 1. aberrant expression of class III beta-tubulin has been observed in passaged RPE cells and RPE cells with dedifferentiated morphology in pathologic epiretinal membranes from idiopathic macular pucker, proliferative vitreoretinopathy (PVR) and proliferative diabetic retinopathy (PDR). Our findings indicate that TGF-beta stimulated aberrant expression of class III beta-tubulin via activation of the ERK signaling pathway.These data demonstrate that mature retinal pigment epithelial (RPE) cells have the capacity to express a neuron-associated gene in response to TGF-beta stimulation and provide useful information towards understanding the pathogenesis of proliferative vitreoretil diseases. | 22037456 |