TUBA4A

TUBA4A is a gene that encodes the protein Tubulin Alpha 4A in humans. This protein is a fundamental component of microtubules, which are cylindrical structures that are essential for many cellular processes, including mitosis, intracellular transport, and the maintenance of cell shape.

Function

The TUBA4A gene provides instructions for making a protein called alpha-tubulin. This protein is a part of microtubules, which are rigid hollow fibers that make up the cell's structural framework (cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division (mitosis), and are involved in cell movement. They also provide a track-like system that directs the movement of vesicles and other molecules within cells.

Clinical Significance

Mutations in the TUBA4A gene have been associated with familial Amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. These mutations are believed to disrupt the normal structure and function of microtubules, leading to the death of nerve cells.

See Also

• Tubulin
• Microtubule
• Amyotrophic lateral sclerosis

External Links

• TUBA4A at the National Center for Biotechnology Information