IRF6 Antibody – Goat Polyclonal

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]

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.

Subunit structure: Interacts with SERPINB5. Ref.7

Subcellular location: Nucleus

Potential. Cytoplasm. Note: Translocates to nucleus in response to an activating signal

By similarity. Ref.7 Ref.8

Tissue specificity: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. Ref.7

Post-translational modification: Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation. Ref.7 Ref.8

Involvement in disease: Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18Popliteal pterygium syndrome (PPS) [MIM:119500]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.19Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.15 Ref.20

Sequence similarities: Belongs to the IRF family.Contains 1 IRF tryptophan pentad repeat DNA-binding domain.