Encyclopedia
TGFB induced factor homeobox 1: The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain).
- genes
1. Normal Function
The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain). TG-interacting factor is a transcription factor, which means that it regulates the activity of certain genes. This protein turns off genes by attaching (binding) to specific regions of DNA or by interacting with other DNA-binding proteins.
TG-interacting factor regulates signaling pathways that are important for embryonic development. This protein blocks the signals of the transforming growth factor beta (TGF-β) pathway. This signaling pathway transmits chemical signals from the cell surface to the nucleus, which allows the environment outside the cell to affect how the cell produces other proteins. TG-interacting factor also blocks a molecule called retinoic acid from regulating gene activity. Retinoic acid, a form of vitamin A, binds to a group of transcription factors that regulate a number of genes important for early development. By blocking these signaling pathways, TG-interacting factor ensures that certain genes are turned off at the proper time.
2. Health Conditions Related to Genetic Changes
2.1. Nonsyndromic holoprosencephaly
At least 13 mutations in the TGIF1 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to divide into two halves (hemispheres) during early development. TGIF1 gene mutations are the fourth most common cause of nonsyndromic holoprosencephaly. These mutations disrupt the protein's ability to bind with DNA or interact with other proteins. As a result, TG-interacting factor cannot block the signals of the TGF-β pathway and retinoic acid. If the signals involved in forebrain development are not properly regulated, the brain does not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.
3. Other Names for This Gene
- 5'-TG-3' interacting factor
- 5'-TG-3'-interacting factor 1
- homeobox protein TGIF
- homeobox protein TGIF1
- HPE4
- MGC39747
- MGC5066
- TALE homeobox TG-interacting factor
- TGFB-induced factor homeobox 1
- TGIF
- TGIF1_HUMAN
- transforming growth factor-beta-induced factor
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tgif1
References
- Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L,Lazaro L, Odent S, David V. Molecular screening of the TGIF gene inholoprosencephaly: identification of two novel mutations. Hum Genet. 2003Feb;112(2):131-4.
- Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. Review.
- El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M. Functional analysis of mutationsin TGIF associated with holoprosencephaly. Mol Genet Metab. 2007Jan;90(1):97-111.
- Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-CostaA, Zackai EH, Massagué J, Muenke M, Elledge SJ. Mutations in TGIF causeholoprosencephaly and link NODAL signalling to human neural axis determination.Nat Genet. 2000 Jun;25(2):205-8.
- Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J MedGenet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236.Review.
- Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Analysis of genotype-phenotypecorrelations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Review.
- Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview. 2000 Dec 27 [updated 2020 Mar 5]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1530/
