Tubulin alpha-4A (TUBA4A)
TUBA4A is an alpha-tubulin gene. Whilst it is not very active during the development of the embryonic brain development, its expression increases dramatically in that of the adult. TUBA4A protein is is therefore likely to contribute to the structure and function of microtubules within mature neurons.
Reflecting its expression, a number of TUBA4A variants have been identified in individuals with familiar Amyotrophic Lateral Sclerosis (ALS). ALS is a late-onset, rapidly progressing neurodegenerative disease. It is thought that microtubule dysfunction due to TUBA4A changes affect the health and function of motor neurons, leading to disease.