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IRF6 encodes a member of the interferon regulatory transcription factor (IRF) family. Additionally we are shipping IRF6 Antibodies (89) and many more products for this protein.
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Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype.
IRF6 is likely to promote inflammation to P. gingivalis through its regulation of IL-36gamma.
results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population.
The IRF6 AP-2a binding site promoter polymorphism is associated with isolated oral clefts in Latvia.
genetic polymorphism of the IRF6 gene is associated with increased risk of nsCLP in a Xinjiang Uyghur population.
Data suggest that the toll like receptor 3 (TLR3 (show TLR3 Proteins))-interferon regulatory factor 6 protein (IRF6)-interleukin-23 subunit p19 (p19 (show IL23A Proteins))/EBI3 (show EBI3 Proteins) protein axis may regulate keratinocyte functions in the skin.
IRF6 acts as a positive regulator of proliferation and transformation in MCF10A cells downstream of Notch (show NOTCH1 Proteins) signaling.
The truncation of IRF6 also prevented the induction of its transactivator function by RIPK4 (show RIPK4 Proteins).
Our results showed that many CL/P candidate genes have relation with Irf6, and 9 of these genes, including Msx1 (show MSX1 Proteins), Pvrl1 (show PVRL1 Proteins), Pax9 (show PAX9 Proteins), Jag2 (show JAG2 Proteins), Irf6, Tgfb3 (show TGFB3 Proteins), Rara (show RARA Proteins), Gli2, and Tgfb2 (show TGFB2 Proteins), were enriched into the CL/P gene group.
significant overrepresentation of tagSNP haplotype carrying rs642961 risk allele in most severe subphenotype of CL/P. recently shown that >80% of IRF6 mutations in syndromic CL/P occur on same haplotype. suggest IRF6 is marker of CL/P severity.
In zebrafish periderm, grainyhead-like 3 (grhl3 (show GRHL3 Proteins)) (an ancient regulator of the epidermal permeability barrier), was identified as acting downstream of Irf6. Simultaneous inhibition of grhl1 (show GRHL1 Proteins) and grhl3 (show GRHL3 Proteins) disrupted periderm differentiation in zebrafish.
analysis of zebrafish expression of IRF6
These experiments reveal a conserved role for maternally-encoded Irf6 in differentiation of a simple epithelium in X. laevis and D. rerio.
Irf6 is required for resistance to Lipopolysaccharides-induced endotoxic shock. In addition, Irf6-deficient bone marrow-derived neutrophils exhibited increased chemotactic index and velocity compared with wild-type cells in vitro.
TGFbeta3 increases IRF6 expression and subsequently regulates SNAI2 (show SNAI2 Proteins) expression; IRF6 appears to regulate epithelial mesenchymal transition during palatal fusion via SNAI2 (show SNAI2 Proteins).
Pvrl1 (show PVRL1 Proteins) is a bona fide target gene of the transcription factor p63 (show CKAP4 Proteins), whereas Pvrl4 (show PVRL4 Proteins) regulation is linked to epidermal differentiation and is under Irf6
Data suggest that Irf6 functions through the RhoA (show RHOA Proteins) pathway to regulate cellular migration.
These results support a role for IRF6 in brain morphometry and provide evidence for a potential genetic link to abnormal brain development in orofacial clefting.
Irf6 plays important cell-autonomous and non-cell-autonomous roles in muscular differentiation and cytoskeletal formation in the tongue.
Irf6 plays a critical role in regulating epithelial invagination
IRF6 and SMAD4 (show SMAD4 Proteins) synergistically regulate the fate of the medial edge epithelium (MEE), and TGFbeta (show TGFB1 Proteins)-mediated Irf6 activity is responsible for MEE degeneration during palatal fusion in mice.
Interaction between IRF6 and TGFA (show TGFA Proteins) genes contribute to the risk of nonsyndromic cleft lip/palate.
These data suggest that MCS9.7 enhancer activity is not sufficient to recapitulate IRF6 expression, and that p63 (show CKAP4 Proteins) expression is not always necessary nor sufficient for transactivation of IRF6.
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.
interferon regulatory factor 6
, interferon regulatory factor 6-like