RFX6

Template:PBB Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a protein that in humans is encoded by the RFX6 gene.

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.

Further reading

• Aftab, S.; Semenec, L.; Chu, J.; Chen, N. (2008). "Identification and characterization of novel human tissue-specific RFX transcription factors". BMC Evolutionary Biology. 8: 226. doi:10.1186/1471-2148-8-226. PMC 2533330. PMID 18673564.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Soyer, J; Flasse, L; Raffelsberger, W; Beucher, A; Orvain, C; Peers, B; Ravassard, P; Vermot, J; Voz, M. L.; Mellitzer, G; Gradwohl, G (2010). "Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development". Development. 137 (2): 203–12. doi:10.1242/dev.041673. PMC 2799156. PMID 20040487.
• Smith, S. B.; Qu, H. Q.; Taleb, N.; Kishimoto, N. Y.; Scheel, D. W.; Lu, Y.; Patch, A. M.; Grabs, R.; Wang, J.; Lynn, F. C.; Miyatsuka, T.; Mitchell, J.; Seerke, R.; Désir, J.; Vanden Eijnden, S. V.; Abramowicz, M.; Kacet, N.; Weill, J.; Renard, M. È.; Gentile, M.; Hansen, I.; Dewar, K.; Hattersley, A. T.; Wang, R.; Wilson, M. E.; Johnson, J. D.; Polychronakos, C.; German, M. S. (2010). "Rfx6 directs islet formation and insulin production in mice and humans". Nature. 463 (7282): 775–780. doi:10.1038/nature08748. PMC 2896718. PMID 20148032.
• 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. (2010). "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population". Nature Genetics. 42 (9): 751–754. doi:10.1038/ng.635. PMID 20676098.
• Pearl, E. J.; Jarikji, Z.; Horb, M. E. (2011). "Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes". Developmental Biology. 351 (1): 135–145. doi:10.1016/j.ydbio.2010.12.043. PMC 3042741. PMID 21215266.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.