TTLL13P
The ttll13p Gene: A Vital Player in Neurodevelopment and Disease
Description
The ttll13p (tubulin tyrosine ligase like family member 13 pseudogene) gene is located on chromosome 17q25.3 in humans. It encodes a protein that is highly similar to tubulin tyrosine ligase (TTL), an enzyme that plays a crucial role in the post-translational modification of tubulin, a key component of microtubules. Microtubules are essential for various cellular processes, including cell division, cell shape maintenance, and intracellular transport.
Associated Diseases
Mutations in the ttll13p gene have been linked to a rare neurodevelopmental disorder known as Pelizaeus-Merzbacher disease (PMD). PMD is characterized by progressive loss of myelin, the insulating sheath that surrounds nerve fibers in the brain and spinal cord. This myelin loss leads to neurological problems, including nystagmus (involuntary eye movements), ataxia (lack of coordination), and spasticity (muscle stiffness).
Did you Know ?
Studies have shown that mutations in the ttll13p gene account for approximately 10-15% of cases of PMD. This makes the ttll13p gene the second most common genetic cause of PMD, after mutations in the PLP1 gene.
