IRF6 est un gène codé par le symbole IRF6. Communément appelé aussi: Interferon regulatory factor 6; IRF-6. IRF6 a une masse de 53.13kDa, une longueur d'acide aminé de 467, et est impliqué dans les maladies: Van der Woude syndrome 1; Popliteal pterygium syndrome; Non-syndromic orofacial cleft 6.
Nous proposons 10 des anticorps contre IRF6, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et IP avec des échantillons dérivés de Humain, Souris, Rat, Singe et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
Implication dans la maladie
Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Popliteal pterygium syndrome: 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: 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.
Similitudes de séquence
Belongs to the IRF family.
Modification post-traductionnelle
Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
Localisation cellulaire
Nucleus. Cytoplasm.
Translocates to nucleus in response to an activating signal.
