TUBB4A : tubulin beta 4A class IVa

Description

The TUBB4A (tubulin beta 4A class IVa) is a protein-coding gene located on chromosome 19.

The TUBB4A gene provides instructions for making beta-tubulin, a protein that is part of the tubulin family and crucial for forming and organizing microtubules. Microtubules are rigid, hollow fibers forming the cell's cytoskeleton, composed of beta-tubulin and alpha-tubulin, produced by different genes. TUBB4A's beta-tubulin is primarily found in the brain, particularly in the basal ganglia and cerebellum, regions vital for movement control. It is also abundant in the brain's white matter, containing nerve fibers insulated by myelin. During brain development, microtubules guide the migration of nerve cells to their correct positions and provide structural support and transport pathways within neurons.

TUBB4A is also known as DYT4, TUBB4, beta-5.

Associated Diseases

• Primary dystonia, DYT4 type
• Dystonia 4, torsion, autosomal dominant
• Leukodystrophy, hypomyelinating, 6
• TUBB4A-related leukodystrophy