Structural highlights
Disease
FOXH1_HUMAN Septopreoptic holoprosencephaly;Semilobar holoprosencephaly;Lobar holoprosencephaly;Alobar holoprosencephaly;Midline interhemispheric variant of holoprosencephaly;Microform holoprosencephaly.
Function
FOXH1_HUMAN 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).[1]
See Also
References
- ↑ Zhou S, Zawel L, Lengauer C, Kinzler KW, Vogelstein B. Characterization of human FAST-1, a TGF beta and activin signal transducer. Mol Cell. 1998 Jul;2(1):121-7. doi: 10.1016/s1097-2765(00)80120-3. PMID:9702198 doi:http://dx.doi.org/10.1016/s1097-2765(00)80120-3
