TUBA1A : tubulin alpha 1a
Description
The TUBA1A (tubulin alpha 1a) is a protein-coding gene located on chromosome 12.
The TUBA1A gene provides instructions for making a protein called alpha-tubulin (α-tubulin). This protein is part of the tubulin family of proteins that form and organize structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). They are composed of α-tubulin and a similar protein called beta-tubulin (β-tubulin) that is produced from a different gene. Microtubules are necessary for cell division and movement.Most cells produce α-tubulin, but the protein is found in highest amounts in the developing brain. During brain development, α-tubulin partners with β-tubulin to form microtubules that move nerve cells (neurons) to their proper location (neuronal migration). Microtubules form scaffolding within the cell. The tubulin proteins that make up the microtubule are moved from one end of a microtubule to the other end. This protein transfer propels the microtubules in a specific direction, moving the cell.
TUBA1A encodes for alpha-tubulin, a protein that forms microtubules. Microtubules are cylindrical structures made up of chains of alpha- and beta-tubulin heterodimers. They grow by adding GTP-bound tubulin dimers to the end, forming a stabilizing cap. Below the cap, tubulin dimers are in GDP-bound state due to the GTPase activity of alpha-tubulin.
TUBA1A is also known as B-ALPHA-1, LIS3, TUBA3.
Associated Diseases
- Congenital fibrosis of extraocular muscles
- Lissencephaly 3
- Fetal akinesia deformation sequence
- Tubulinopathy-associated dysgyria
- Lissencephaly due to TUBA1A mutation
- Isolated lissencephaly sequence
- Lissencephaly with cerebellar hypoplasia
