IRF6

Also known as PPS, PPS1, VWS, VWS1, LPS, OFC6, PIT, interferon regulatory factor 6

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

Gene data

IRF6

Name: interferon regulatory factor 6
Type: protein-coding
Position: 209,785,254–209,806,217 (−)
Aliases: LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1
Ensembl: ENSG00000117595
RefSeq RNA: NM_001206696.2, NM_006147.4
RefSeq protein: NP_001193625.1, NP_006138.1

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.[provided by RefSeq, May 2011].

Gene Ontology

Biological process

immune system process

Article

7 sections

Contents

Function
Pathology
Epigenetics
Cancer
See also
References
External links

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

== Function == 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 function of IRF6 is related to the formation of connective tissue, for example that of the palate. This gene encodes a member of the interferon regulatory transcription factor (IRF) family. In addition, it has been observed that IRF6 gene is under epigenetic regulation by promoter methylation.