TGIF1 : TGFB induced factor homeobox 1
Description
The TGIF1 (TGFB induced factor homeobox 1) is a protein-coding gene located on chromosome 18.
The TGIF1 gene provides instructions for making a protein called TG-interacting factor, essential for normal development of the forebrain. This protein acts as a transcription factor, regulating the activity of certain genes by turning them off through binding to specific DNA regions or interacting with other DNA-binding proteins. TG-interacting factor regulates signaling pathways important for embryonic development, blocking signals from the transforming growth factor beta (TGF-β) pathway and retinoic acid. By inhibiting these pathways, TG-interacting factor ensures specific genes are turned off at the appropriate time.
TGIF1 binds to a retinoid X receptor (RXR) responsive element in the cellular retinol-binding protein II promoter (CRBPII-RXRE). It inhibits the activation of the retinoic acid responsive element by 9-cis-retinoic acid-dependent RXR alpha. TGIF1 is an active transcriptional corepressor of SMAD2, linking the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. It may play a role in transmitting nuclear signals during development and adulthood, as shown by the down-modulation of RXR alpha activities.
TGIF1 is also known as HPE4, TGIF.
Associated Diseases
- Lobar holoprosencephaly
- Septopreoptic holoprosencephaly
- Microform holoprosencephaly
- Holoprosencephaly 4
- Semilobar holoprosencephaly
- Alobar holoprosencephaly
- Midline interhemispheric variant of holoprosencephaly
- Nonsyndromic holoprosencephaly