RFX6 explained

Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.^[1]

Function

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes.

Clinical significance

Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.^[2]

Further reading

• Aftab S, Semenec L, Chu JS, Chen N . Identification and characterization of novel human tissue-specific RFX transcription factors . BMC Evolutionary Biology . 8 . 226 . 2008 . 1 . 18673564 . 2533330 . 10.1186/1471-2148-8-226 . 2008BMCEE...8..226A . free .
• Soyer J, Flasse L, Raffelsberger W, Beucher A, Orvain C, Peers B, Ravassard P, Vermot J, Voz ML, Mellitzer G, Gradwohl G . Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development . Development . 137 . 2 . 203–12 . January 2010 . 20040487 . 2799156 . 10.1242/dev.041673 .
• Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, Miyatsuka T, Mitchell J, Seerke R, Désir J, Vanden Eijnden S, Abramowicz M, Kacet N, Weill J, Renard ME, Gentile M, Hansen I, Dewar K, Hattersley AT, Wang R, Wilson ME, Johnson JD, Polychronakos C, German MS . Rfx6 directs islet formation and insulin production in mice and humans . Nature . 463 . 7282 . 775–80 . February 2010 . 20148032 . 2896718 . 10.1038/nature08748 . 2010Natur.463..775S .
• 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 . Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population . Nature Genetics . 42 . 9 . 751–4 . September 2010 . 20676098 . 10.1038/ng.635 . 24824386 .
• Pearl EJ, Jarikji Z, Horb ME . Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes . Developmental Biology . 351 . 1 . 135–45 . March 2011 . 21215266 . 3042741 . 10.1016/j.ydbio.2010.12.043 .

Notes and References

1. Web site: Entrez Gene: Regulatory factor X, 6. 2012-02-10 .
2. Web site: Entrez Gene: Regulatory factor X, 6. 2012-02-10 .