Homeobox protein TGIF1 is a
protein that, in humans, is encoded by the TGIF1gene.[5][6][7] Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
Function
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical
homeodomains. TALE
homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized
retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of
SMAD2 and may participate in the transmission of nuclear signals during development and in the adult.
Clinical significance
Mutations in this gene are associated with
holoprosencephaly type 4, which is a structural anomaly of the brain.[7] It has also been associated with risk of otitis media (inflammation of the middle ear)
Interactions
Homeobox protein TGIF1 has been shown to
interact with:
Chen CP, Chern SR, Du SH, Wang W (2002). "Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis". Prenat. Diagn. 22 (1): 5–7.
doi:
10.1002/pd.202.
PMID11810641.
S2CID8297098.
Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V (2003). "Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations". Hum. Genet. 112 (2): 131–4.
doi:
10.1007/s00439-002-0862-8.
PMID12522553.
S2CID2238304.
Lam DS, Lee WS, Leung YF, Tam PO, Fan DS, Fan BJ, Pang CP (2003). "TGFbeta-induced factor: a candidate gene for high myopia". Invest. Ophthalmol. Vis. Sci. 44 (3): 1012–5.
doi:
10.1167/iovs.02-0058.
PMID12601022.
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (2004). "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations". Hum. Mutat. 24 (1): 43–51.
doi:
10.1002/humu.20056.
PMID15221788.
S2CID34076824.
Homeobox protein TGIF1 is a
protein that, in humans, is encoded by the TGIF1gene.[5][6][7] Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
Function
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical
homeodomains. TALE
homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized
retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of
SMAD2 and may participate in the transmission of nuclear signals during development and in the adult.
Clinical significance
Mutations in this gene are associated with
holoprosencephaly type 4, which is a structural anomaly of the brain.[7] It has also been associated with risk of otitis media (inflammation of the middle ear)
Interactions
Homeobox protein TGIF1 has been shown to
interact with:
Chen CP, Chern SR, Du SH, Wang W (2002). "Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis". Prenat. Diagn. 22 (1): 5–7.
doi:
10.1002/pd.202.
PMID11810641.
S2CID8297098.
Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V (2003). "Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations". Hum. Genet. 112 (2): 131–4.
doi:
10.1007/s00439-002-0862-8.
PMID12522553.
S2CID2238304.
Lam DS, Lee WS, Leung YF, Tam PO, Fan DS, Fan BJ, Pang CP (2003). "TGFbeta-induced factor: a candidate gene for high myopia". Invest. Ophthalmol. Vis. Sci. 44 (3): 1012–5.
doi:
10.1167/iovs.02-0058.
PMID12601022.
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V (2004). "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations". Hum. Mutat. 24 (1): 43–51.
doi:
10.1002/humu.20056.
PMID15221788.
S2CID34076824.