Aliases for IRF6 Gene
External Ids for IRF6 Gene
Previous HGNC Symbols for IRF6 Gene
Previous GeneCards Identifiers for IRF6 Gene
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]
GeneCards Summary for IRF6 Gene
IRF6 (Interferon Regulatory Factor 6) is a Protein Coding gene. Diseases associated with IRF6 include Van Der Woude Syndrome and Popliteal Pterygium Syndrome 1. Among its related pathways are NF-kappaB Signaling and Immune System. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and regulatory region DNA binding. An important paralog of this gene is IRF3.
UniProtKB/Swiss-Prot for IRF6 Gene
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).