RFX6
Description
The RFX6 (regulatory factor X6) is a protein-coding gene located on chromosome 6.
RFX6, also known as DNA-binding protein RFX6 or Regulatory factor X, 6, is a protein encoded by the RFX6 gene in humans. This nuclear protein is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice indicate that RFX6 is specifically required for the differentiation of islet cells for insulin production, but not for the differentiation of pancreatic polypeptide-producing cells. RFX6 regulates transcription factors involved in beta-cell maturation and function, restricting the expression of genes crucial for beta-cell differentiation and specification. Mutations in the RFX6 gene are associated with Mitchell-Riley syndrome, characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.
RFX6 is a transcription factor essential for the differentiation of islet cells during endocrine pancreas development. Specifically, it's crucial for the differentiation of four out of the five islet cell types, including those responsible for insulin production. It does not play a role in the differentiation of pancreatic polypeptide-producing cells. RFX6 acts downstream of NEUROG3, regulating transcription factors involved in beta-cell maturation and function. It restricts the expression of genes responsible for beta-cell differentiation and specification, ultimately influencing beta-cell fate choice. RFX6 forms a heterodimer with RFX3 and binds to the X-box in the promoter of target genes to activate transcription. RFX6 is involved in glucose-stimulated insulin secretion by promoting the transcription of insulin and L-type calcium channel genes.
RFX6 is also known as MTCHRS, MTFS, RFXDC1, dJ955L16.1.
