RFX6

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

Function
The nuclear protein encoded by this gene is a member of the is_associated_with::regulatory factor X (RFX) family of is_associated_with::transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of is_associated_with::islet cells for the production of is_associated_with::insulin, but not for the differentiation of is_associated_with::pancreatic polypeptide-producing cells. It regulates the transcription factors involved in is_associated_with::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 is_associated_with::Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic is_associated_with::hypoplasia, duodenal and jejunal is_associated_with::atresia, and gall bladder agenesis.