Regulatory factor X, 6 also known as DNA-binding protein RFX6 is a
protein that in humans is encoded by the RFX6gene.[5]
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.[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.