FOXH1
Description
The FOXH1 (forkhead box H1) is a protein-coding gene located on chromosome 8.
FOXH1 is a human protein encoded by the FOXH1 gene. It is a homolog of Xenopus forkhead activin signal transducer-1, binding to SMAD2 and activating an activin response element via the DNA motif TGT(G/T)(T/G)ATT. As a transcription factor with a conserved function in chordates, FOXH1 works with other transcription factors to ensure proper node formation during early embryo development. It is crucial for anterior/posterior determination during gastrulation. During the third week of gestation, splanchnic mesoderm cells migrate to form the cardiac crescent, which consists of two heart fields: the primary and secondary heart fields. These fields fuse to create a primitive single-chambered heart, the primary myocardium. The secondary (anterior) heart field, derived from the cardiac crescent cells, contributes to the outflow tract and the right ventricle of the mature heart. In the absence of FOXH1, only the primary myocardium forms, with limited looping and undefined right ventricles and outflow tracts.
FOXH1 is also known as FAST-1, FAST1.
Associated Diseases
- Alobar holoprosencephaly
- Septopreoptic holoprosencephaly
- Microform holoprosencephaly
- Semilobar holoprosencephaly
- Lobar holoprosencephaly
- Midline interhemispheric variant of holoprosencephaly
