TUBB3

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]

Description

Tubulin beta 3 class III

Tissue specificity

Tissue enriched (brain)

Subcell location

Microtubules, Cytokinetic bridge, Mitotic spindle

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

16 (89921392 - 89938761)

Ensembl ID

ENSG00000258947  (ver. 103.38)

Orthologs

-

UniProt

Q13509

neXtProt

NX_Q13509

Human splice variants

Protein structure