FOXF1 Antibody – Rabbit Polyclonal

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]

FOXF1: Probable transcription activator for a number of lung- specific genes. Defects in FOXF1 are the cause of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). ACDMPV is a rare malformation due to abnormal development of the capillary vascular system in the lungs. Histologically, it is characterized by 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.

Protein type: DNA-binding; Motility/polarity/chemotaxis; Transcription factor

Chromosomal Location of Human Ortholog: 16q24.1

Cellular Component: nucleus; transcription factor complex

Molecular Function: DNA binding; RNA polymerase II transcription factor activity, enhancer binding; sequence-specific DNA binding

Biological Process: blood vessel development; embryonic digestive tract morphogenesis; embryonic ectodermal gut morphogenesis; gut development; heart development; in utero embryonic development; lung development; midgut development; morphogenesis of a branching structure; pancreas development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; respiratory tube development

Disease: Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins