Analysis of IRF6 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1057-LGZ)

Introduction

Official Full Name: interferon regulatory factor 6
Also known as: LPS; PIT; PPS; VWS; OFC6; PPS1; VWS1
This gene encodes a member of the interferon-regulated transcription factor (IRF) family. Family members share a highly conserved N-terminal helix-helix-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 cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene have also been associated with nonsyndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.