Aliases for RFX6 Gene
External Ids for RFX6 Gene
Previous HGNC Symbols for RFX6 Gene
Previous GeneCards Identifiers for RFX6 Gene
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.[provided by RefSeq, Sep 2010]
GeneCards Summary for RFX6 Gene
RFX6 (Regulatory Factor X6) is a Protein Coding gene. Diseases associated with RFX6 include Mitchell-Riley Syndrome and Pancreatic Hypoplasia, Intestinal Atresia, And Gallbladder Aplasia Or Hypoplasia, With Or Without Tracheoesophageal Fistula. Among its related pathways are Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is RFX5.
UniProtKB/Swiss-Prot for RFX6 Gene
Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin (PubMed:20148032, PubMed:25497100). Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes (PubMed:20148032). Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription (PubMed:25497100).