FOXF1 gene

forkhead box F1

The FOXF1 gene provides instructions for making the forkhead box F1 (FOXF1) protein. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in the development of pulmonary mesenchyme, the embryonic tissue from which blood vessels of the lung arise. It is also involved in the development of the gastrointestinal tract.

At least four mutations in the FOXF1 gene have been identified in infants with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). Some mutations change single protein building blocks (amino acids) used to make the FOXF1 protein. Other mutations insert or delete genetic material in the FOXF1 gene. These mutations result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels. Affected infants with FOXF1 gene mutations usually also have gastrointestinal abnormalities.

Cytogenetic Location: 16q24, which is the long (q) arm of chromosome 16 at position 24

Molecular Location: base pairs 86,510,527 to 86,514,464 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q24, which is the long (q) arm of chromosome 16 at position 24
  • ACDMPV
  • FKHL5
  • forkhead-related activator 1
  • Forkhead, drosophila, homolog-like 5
  • FOXF1_HUMAN
  • FREAC1
  • MGC105125