FOXF1 : forkhead box F1
Description
The forkhead box F1 (FOXF1) gene is responsible for producing the FOXF1 protein, a transcription factor that plays a crucial role in various developmental processes. By binding to specific DNA sequences, FOXF1 orchestrates the expression of multiple other genes, regulating their activity and shaping the development of specific tissues and organs.
Associated Diseases
Mutations in the FOXF1 gene can lead to several medical conditions, including:
- Congenital heart defects, such as pulmonary valve stenosis and tetralogy of Fallot
- Intellectual disability
- Microcephaly (abnormally small head size)
- Robin sequence (a combination of cleft palate, micrognathia, and glossoptosis)
- Isolated growth hormone deficiency
- Pulmonary hypoplasia (underdeveloped lungs)
- Chronic lung disease
- GERD Gastroesophageal Reflux Disease
Did you Know ?
Approximately 1 in 30,000 individuals worldwide is affected by a FOXF1-related disorder.
