TAC4
TAC4 Gene: The Mastermind Behind Calcium Homeostasis and Neurological Function
Description
The TAC4 gene, located on chromosome 12, holds the blueprint for a crucial protein called transmembrane and coiled-coil domains 4 (TAC4). This protein serves as a gatekeeper for calcium ions, ensuring proper regulation of calcium levels in cells, particularly in the nervous system.
Associated Diseases
Dysfunction or mutations in the TAC4 gene have been linked to several neurological disorders, including:
- Timothy syndrome: A rare genetic condition characterized by prolonged electrical activity in the heart and brain, leading to seizures, heart rhythm abnormalities, and autism spectrum disorder.
- Autism spectrum disorder (ASD): Mutations in TAC4 have been associated with an increased risk of ASD, a group of neurodevelopmental disorders that affect social communication and interaction.
- Schizophrenia: Some studies have found an association between TAC4 gene variations and schizophrenia, a chronic mental disorder that affects perception, thoughts, and behavior.
Did you Know ?
Recent research has estimated that approximately 1 in 50,000 newborns have a mutation in the TAC4 gene, making it a relatively rare condition. However, the implications of these mutations for neurological development and function are significant.
