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Interferon Regulatory Factor 6 (IRF6)

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VWS; LPS; OFC6; PPS; PIT

Interferon Regulatory Factor 6 (IRF6)
CCC B958
HGNC 6121
MGI 1859211
PubMed 16096995
RGD 1309645
UniProt O14896
Wiki IRF6

IRF6 isa 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.A mutation of the IRF6 gene can lead to van der Woude syndrome or the related popliteal pterygium syndrome. These disorders are caused by mutations in the IRF6 gene and some of the phenotypic heterogeneity is due to different types of IRF6 mutations.One explanation for this phenotypic variation between syndromes is based on a differential impact on the structure of the dimerized mutant proteins.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB958Hu01 Recombinant Interferon Regulatory Factor 6 (IRF6) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB958Hu01 Polyclonal Antibody to Interferon Regulatory Factor 6 (IRF6) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Interferon Regulatory Factor 6 (IRF6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Interferon Regulatory Factor 6 (IRF6) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB958Mu01 Recombinant Interferon Regulatory Factor 6 (IRF6) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB958Mu01 Polyclonal Antibody to Interferon Regulatory Factor 6 (IRF6) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Interferon Regulatory Factor 6 (IRF6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Interferon Regulatory Factor 6 (IRF6) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Interferon Regulatory Factor 6 (IRF6) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Interferon Regulatory Factor 6 (IRF6) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Interferon Regulatory Factor 6 (IRF6) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Interferon Regulatory Factor 6 (IRF6) CLIA Kit Customized Service Offer
n/a ELISA Kit for Interferon Regulatory Factor 6 (IRF6) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership."J. Biol. Chem. 280:34210-34217(2005) [PubMed] [Europe PMC] [Abstract]
  5. "Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner."Mol. Cell. Biol. 28:2235-2243(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes." Nat. Genet. 32:285-289(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Novel mutations in the IRF6 gene for Van der Woude syndrome."Hum. Genet. 113:382-386(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium."Hum. Genet. 113:558-558(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion."J. Hum. Genet. 48:622-628(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Gene symbol: IRF6. Disease: Van der Woude syndrome."Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate." N. Engl. J. Med. 351:769-780(2004) [PubMed] [Europe PMC] [Abstract]
  13. "A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis."J. Dent. Res. 85:1143-1146(2006) [PubMed] [Europe PMC] [Abstract]
  14. "A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia."Am. J. Med. Genet. A 146:1605-1608(2008) [PubMed] [Europe PMC] [Abstract]
  15. "Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6."Hum. Mol. Genet. 18:535-545(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome."Am. J. Med. Genet. A 152:2262-2267(2010) [PubMed] [Europe PMC] [Abstract]
  17. "IRF6 mutations in mixed isolated familial clefting."Am. J. Med. Genet. A 152:3107-3109(2010) [PubMed] [Europe PMC] [Abstract]