Background

FOXH1 (Forkhead Box H1) is a Protein Coding gene. Diseases associated with FOXH1 include Midline Interhemispheric Variant Of Holoprosencephaly and Septopreoptic Holoprosencephaly. Among its related pathways are TGF-beta receptor signaling in skeletal dysplasias and Signaling by TGFB family members. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein domain specific binding. An important paralog of this gene is FOXI3. Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element). ( FOXH1_HUMAN,O75593 )