FOXF1
Developmental stage
Expressed in fetal lung.
Domain
Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.
Function
Probable transcription activator for a number of lung-specific genes.
Involvement in disease
Alveolar capillary dysplasia with misalignment of pulmonary veins
ACDMPV
A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in lung and placenta.
Cellular localization
- Nucleus
Alternative names
FKHL5, FREAC1, FOXF1, Forkhead box protein F1, Forkhead-related activator 1, Forkhead-related protein FKHL5, Forkhead-related transcription factor 1, FREAC-1