TIAF1
The TAF1 Gene: Delving into Its Role in Human Health
Description
The TAF1 gene, located on chromosome 22, encodes the TATA-binding protein-associated factor 1 (TAF1). TAF1 is a crucial protein involved in the initiation of transcription, the process by which genetic information is read from DNA to produce RNA. It plays a pivotal role in the formation of the transcription initiation complex, which assembles at the promoter region of genes.
Associated Diseases
Mutations in the TAF1 gene have been linked to several human diseases, including:
- Trichothiodystrophy: A rare genetic disorder characterized by extreme sensitivity to sunlight, leading to skin rashes, hair loss, and nail abnormalities. Mutations in TAF1 account for approximately 20% of trichothiodystrophy cases.
- Cleft lip and palate: A birth defect resulting in a split or incompletely formed lip and palate. TAF1 mutations have been associated with an increased risk of cleft lip and palate in certain populations.
- Developmental delay: Mutations in TAF1 can lead to developmental delays, intellectual disability, and other neurological problems.
Did you Know ?
According to a study conducted in 2019, approximately 0.5% of individuals with unexplained developmental delay carry mutations in the TAF1 gene. This highlights the significance of this gene in human development.
