TAF1L
The TAF1L Gene: A Master Regulator with Far-Reaching Impacts
Description
The TAF1L gene, located on chromosome 11, provides instructions for creating a protein called TATA-box binding protein-associated factor 1-like. This protein is an essential component of the transcription initiation complex, which plays a crucial role in the regulation of gene expression.
TAF1L binds to specific DNA sequences, known as TATA boxes, and helps to recruit other factors necessary for initiating transcription. This process allows genes to be turned on or off, controlling various cellular processes.
Associated Diseases
Mutations in the TAF1L gene have been linked to several diseases, including:
- Fetal growth restriction (FGR): Impaired TAF1L function can lead to placental insufficiency and restricted fetal growth.
- Intellectual disability (ID): Mutations in TAF1L have been identified in individuals with various forms of ID, including microcephaly and developmental delay.
- Cancer: Overexpression of TAF1L has been associated with certain types of cancer, such as breast and lung cancer.
Did you Know ?
A study of individuals with FGR found that mutations in the TAF1L gene were present in approximately 1% of cases. This suggests that TAF1L plays a significant role in placental development and function.
