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RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY).
study reports two individuals each with compound heterozygous RFX6 nonsense mutations and an intestinal phenotype consistent with Mitchell-Riley syndrome, but with onset of diabetes in childhood rather than in the first 2 weeks of life
association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations.
RFX6 controls insulin gene transcription, insulin content, and secretion by regulation of Ca(2+)-channel genes.
rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus.
A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding.
Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations
RFX6 mutation is responsible for neonatal diabetes syndrome.
Therefore, RFX6 appears to have a pivotal role in the maintenance of the phenotype of the beta-cells in addition to their development.
In early development Rfx6 plays a broad role, being essential for development of most anterior endodermal organs. At later stages however, Rfx6 function is restricted to endocrine cells.
studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans
RFX6 is a winged helix transcription factor expressed almost exclusively in the pancreatic islets.
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. 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.
DNA-binding protein RFX6
, regulatory factor X domain-containing protein 1
, regulatory factor X domain containing 1
, Regulatory factor X 6