The nuclear protein encoded by this gene is a member of theregulatory factor X (RFX) family oftranscription factors. Studies in mice suggest that this gene is specifically required for the differentiation ofislet cells for the production ofinsulin, but not for the differentiation ofpancreatic polypeptide-producing cells. It regulates the transcription factors involved inbeta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes.
Mutations in this gene are associated withMitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatichypoplasia, duodenal and jejunalatresia, and gall bladder agenesis.[5]
Takata R, Akamatsu S, Kubo M, Takahashi A, Hosono N, Kawaguchi T, Tsunoda T, Inazawa J, Kamatani N, Ogawa O, Fujioka T, Nakamura Y, Nakagawa H (September 2010). "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population".Nature Genetics.42 (9):751–4.doi:10.1038/ng.635.PMID20676098.S2CID24824386.
