Recombinant Human Interferon regulatory factor 6 (IRF6)

Uniprot Id

O14896

Target Species

Human

Target Name

IRF6

Target Full Name

Interferon regulatory factor 6

Target Function

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.

Target Involvement

Van der Woude syndrome 1 (VWS1); Popliteal pterygium syndrome (PPS); Non-syndromic orofacial cleft 6 (OFC6)

Target Subcellular Location

Nucleus. Cytoplasm.

Target Protein Families

IRF family

Target Tissue Specificity

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.

Target Synonyms

Interferon regulatory factor 6; IRF 6; IRF-6; IRF6; IRF6_HUMAN; LPS; OFC 6; OFC6; OTTHUMP00000034677; OTTHUMP00000034678; PIT; PPS; PPS1; VWS; VWS1

Target Background

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.