Gene: RFX6
Alternate names for this Gene: MTCHRS|MTFS|RFXDC1|dJ955L16.1
Gene Summary: 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.
Gene is located in Chromosome: 6
Location in Chromosome : 6q22.1
Description of this Gene: regulatory factor X6
Type of Gene: protein-coding
rs339331 in
RFX6 gene and
Malignant neoplasm of prostate
PMID 20676098 2010 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
rs267607012 in
RFX6 gene and
Mitchell-Riley Syndrome
PMID 25497100 2014 RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.
PMID 20148032 2010 Rfx6 directs islet formation and insulin production in mice and humans.
rs339331 in
RFX6 gene and
Prostate carcinoma
PMID 20676098 2010 Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
PMID 26034056 2015 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.
PMID 31562322 2019 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
PMID 26443449 2015 Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer.