FOXF1 Antibody – Mouse Monoclonal

Function: Probable transcription activator for a number of lung-specific genes. Ref.1

Subcellular location: Nucleus

Probable.

Tissue specificity: Expressed in lung and placenta. Ref.6

Developmental stage: Expressed in fetal lung. Ref.6

Domain: Activation domains C-terminal of (and distinct from) the forkhead domains are necessary for transcriptional activation.

Involvement in disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Contains 1 fork-head DNA-binding domain.

Caution: It is uncertain whether Met-1 or Met-26 is the initiator.

Sequence caution: The sequence AAC50399.1 differs from that shown. Reason: Erroneous initiation. The sequence AAC61576.1 differs from that shown. Reason: Erroneous initiation. The sequence AAH89442.1 differs from that shown. Reason: Erroneous initiation. The sequence BAG36851.1 differs from that shown. Reason: Frameshift at several positions.