IRF6 ist ein Gen, das durch das Symbol IRF6 kodiert wird. Im Allgemeinen auch bezeichnet als: Interferon regulatory factor 6; IRF-6. IRF6 hat eine Masse von 53.13kDa, eine Aminosäurelänge von 467, und ist an folgenden Krankheiten beteiligt: Van der Woude syndrome 1; Popliteal pterygium syndrome; Non-syndromic orofacial cleft 6.
Wir bieten 10 antikörper gegen IRF6, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and IP mit Proben abgeleitet von Human, Maus, Ratte, Affe und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the IRF family.
Posttranslationale Modifikation
Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.
Zellort
Nucleus. Cytoplasm.
Translocates to nucleus in response to an activating signal.
