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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.
Full Name
Interferon Regulatory Factor 6
Function
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).
Biological Process
Cell developmentIEA:Ensembl
Cranial skeletal system developmentIEA:Ensembl
Immune system processManual Assertion Based On ExperimentIBA:GO_Central
Keratinocyte differentiationIEA:Ensembl
Keratinocyte proliferationIEA:Ensembl
Limb developmentIEA:Ensembl
Mammary gland epithelial cell differentiationISS:UniProtKB
Negative regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Roof of mouth developmentIEA:Ensembl
Cellular Location
Cytoplasm; Nucleus. Translocates to nucleus in response to an activating signal.
Involvement in disease
Van der Woude syndrome 1 (VWS1):
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Popliteal pterygium syndrome (PPS):
An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
Non-syndromic orofacial cleft 6 (OFC6):
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
PTM
Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.

Anti-IRF6 antibodies

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Target: IRF6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYY-I0384
Application*: WB
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYY-I1953
Application*: WB, IH, IF, F
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1B9
Application*: WB
Target: IRF6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1D4
Application*: F, IF, WB
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 2A12
Application*: WB, P, F, IC, IF
Target: IRF6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat, Dog
Clone: 2C10
Application*: WB, F, IH, IF, P
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human, Mouse
Clone: CBYY-I0617
Application*: WB
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYY-I1904
Application*: WB
Target: IRF6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYY-I1920
Application*: WB, IF, F
Target: IRF6
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Dog, Rat
Clone: CBYY-I1970
Application*: WB, IH, IF, F
Target: IRF6
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human, Monkey, Dog
Clone: CBYY-I2146
Application*: WB, IH
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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