2024年12月25日 · IRF6 (Interferon Regulatory Factor 6) is a Protein Coding gene. Diseases associated with IRF6 include Orofacial Cleft 6 and Popliteal Pterygium Syndrome. Among its related pathways are Antiviral mechanism by IFN-stimulated genes and Cytokine Signaling in Immune system.

Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene. [5] 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. [6] .

2003年10月30日 · Most commonly, IRF6 -related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.

IRF6 directly targets the ABCG2 gene and selectively kills cancer stem cells in nasopharyngeal carcinoma; study reports a significant association between the rs2235371 variant in the IRF6 gene and non-syndromic cleft lip/palate in Mexican Mestizos

2024年8月1日 · Irf6 KO in primary IEC organoids reduced growth and developmental gene expression, with enhanced production of particular ISGs and increased IFN-stimulated cytotoxicity. These data suggest a previously unappreciated role …

2012年7月6日 · Clinical resource with information about IRF6, A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4., Autosomal dominant popliteal pterygium syndrome, Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci., Key susceptibility ...

2004年8月19日 · We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der...

The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

该基因编码干扰素调节转录因子 (IRF) 家族的成员。 家族成员共享一个高度保守的 N 端螺旋-转角-螺旋 DNA 结合域和一个不太保守的 C 端蛋白结合域。 编码的蛋白质可以是转录激活剂。 该基因的突变可导致范德沃德综合征和腘翼状胬肉综合征。 该基因的突变也与 6 型非综合征性口面部裂相关。 交替剪接导致多个转录变体。 [RefSeq 提供，2011 年 5 月] This gene encodes a member of the interferon regulatory transcription factor (IRF) family.

2024年10月9日 · IRF6蛋白在多个生物学过程中起着重要的调控作用，特别是在发育和免疫反应中。 通过调节基因表达和参与细胞间信号传递，IRF6对于正常生理功能至关重要。 对IR. F6功能的深入理解可能为发育异常和免疫疾病的研究提供重要线索。