TUBB3 : tubulin beta 3 class III

Description

The TUBB3 (tubulin beta 3 class III) is a protein-coding gene located on chromosome 16.

The TUBB3 gene provides instructions for making one version of a protein called beta-tubulin (β-tubulin). This protein is part of the tubulin family of proteins that form and organize cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of β-tubulin and a similar protein called alpha-tubulin (α-tubulin) that is produced from a different gene. Microtubules grow and shrink as tubulin proteins are added to and removed from the ends of fibers. This process allows cells to move and change shape.β-tubulin produced from the TUBB3 gene is found in nerve cells (neurons) in the brain. This β-tubulin protein plays a role in the growth of specialized nerve cell extensions called axons and dendrites (collectively called neurites). Studies show this protein is particularly important for the regrowth of neurites after injury. Neurites relay messages to and from the brain to control muscle movement and detect sensations. In addition to their role in cell movement, microtubules also function as a track along which other proteins, called motor proteins, transport materials within cells. β-tubulin produced from the TUBB3 gene appears to be important in the attachment of motor proteins to microtubules.

TUBB3, also known as Tubulin beta-3 chain, Tubulin beta-4 chain, or Tubulin beta-III, is a crucial component of microtubules, which are cylindrical structures composed of alpha- and beta-tubulin heterodimers. Microtubules grow through the addition of GTP-tubulin dimers to their ends, forming a stabilizing cap. Below this cap, tubulin dimers are in a GDP-bound state due to the GTPase activity of alpha-tubulin. TUBB3 plays a vital role in guiding and maintaining axons, the long extensions of nerve cells. The binding of NTN1/Netrin-1 to its receptor UNC5C may trigger the dissociation of UNC5C from polymerized TUBB3 in microtubules, leading to increased microtubule dynamics and axon repulsion. TUBB3 also contributes to the projection of dorsal root ganglion axons towards the spinal cord.

TUBB3 is also known as CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4.

Associated Diseases

• Cortical dysplasia, complex, with other brain malformations 1
• Tubulinopathy-associated dysgyria
• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• Congenital fibrosis of extraocular muscles
• Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement
• Congenital fibrosis of the extraocular muscles