TTLL9
The Essential Role of the ttll9 Gene: From Health to Disease and Beyond
Description
The ttll9 gene, located on chromosome 19p13.2, plays a pivotal role in the body's cellular processes. It encodes the enzyme tubulin tyrosine ligase-like 9, which is responsible for modifying tubulin proteins. Tubulins are essential components of microtubules, the dynamic structures that form the cytoskeleton of cells and support various cellular functions, including cell division, motility, and transport.
Associated Diseases
Mutations in the ttll9 gene have been linked to several diseases, primarily affecting brain development and function. These include:
- Microcephaly: A condition characterized by an abnormally small head and brain, often resulting in severe intellectual disability.
- Joubert syndrome: A rare genetic disorder that affects the brainstem and cerebellum, causing ataxia (difficulty with movement), hypotonia (low muscle tone), and breathing problems.
- Lissencephaly: A brain malformation marked by a smooth, underdeveloped cerebral cortex (the outer layer of the brain), leading to severe cognitive impairment and physical disabilities.
- Other neurodevelopmental disorders: Mutations in the ttll9 gene have also been associated with autism, intellectual disability, and developmental delay.
Did you Know ?
Approximately 1 in 1,000,000 individuals are born with a mutation in the ttll9 gene. While this is a relatively rare occurrence, it underscores the significant impact that genetic variations in this gene can have on human health.
