RFX6(redirected from OTTHUMP00000017079)
RFX6A gene on chromosome 6q22.1 that belongs to the regulatory factor X gene family, which encode transcription factors that contain a highly conserved winged-helix DNA-binding domain. RFX6 is thought to be required for the differentiation and maturation of pancreatic islet cells and insulin production (but not for the differentiation of pancreatic polypeptide-producing cells). RFX6 activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the target gene’s promoter region.
RFX6 mutation is associated with Mitchell-Riley syndrome, which is characterised by neonatal diabetes, pancreatic hypoplasia, duodenal and jejunal atresia and gall bladder agenesis.