TCTEX1D2
Understanding the tctex1d2 Gene: Its Role and Implications
Description
The tctex1d2 gene, located on chromosome 12, encodes a protein called t-complex 1 domain containing protein 2. This protein is primarily expressed in the brain, where it plays a crucial role in synaptic function and neuronal development. It is involved in various processes, including the formation and maintenance of synapses, the connections between neurons that allow communication.
Associated Diseases
Mutations or variations in the tctex1d2 gene have been linked to several neurological disorders, including:
- Intellectual disability (ID): ID is a condition characterized by significant impairments in intellectual and adaptive functioning. Mutations in tctex1d2 have been found in individuals with ID, particularly those with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).
- Epilepsy: Epilepsy is a neurological disorder characterized by recurrent seizures. Variations in tctex1d2 have been associated with an increased risk of epilepsy, particularly in individuals with ID.
- Autism spectrum disorder (ASD): ASD is a developmental disorder that affects social and communication skills. Tctex1d2 mutations have been identified in some individuals with ASD, suggesting a possible role for this gene in the disorder's development.
Did you Know ?
A study published in the journal "Molecular Psychiatry" found that approximately 1% of individuals with ID have mutations or variations in the tctex1d2 gene. This highlights the potential significance of this gene in neurodevelopmental disorders.
