IRF6 Antibody – Mouse Monoclonal

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]

IRF6: Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development. Plays a role in regulating mammary epithelial cell proliferation. May regulate WDR65 transcription. Interacts with SERPINB5. Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. Belongs to the IRF family.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 1q32.3-q41

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: protein binding; DNA binding; transcription factor activity

Biological Process: keratinocyte differentiation; negative regulation of cell proliferation; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; cytokine and chemokine mediated signaling pathway; keratinocyte proliferation; cell cycle arrest; cell development

Disease: Orofacial Cleft 6, Susceptibility To; Popliteal Pterygium Syndrome; Van Der Woude Syndrome 1