Regulatory factor X6 (RFX6)

Regulatory factor X6 (RFX6) is a nuclear DNA-binding transcription factor belonging to the regulatory factor X (RFX) family that plays an essential role in the development and function of the endocrine pancreas[1][3][5]. RFX6 is required for the differentiation of most pancreatic islet cell types, excluding pancreatic polypeptide (PP) cells, and is crucial for proper insulin and glucagon regulation[1][3][4][5]. It regulates the transcription of genes involved in beta-cell maturation as well as adult α-cell function[4]. Mutations in the RFX6 gene cause syndromic forms of early-onset diabetes, most notably Mitchell-Riley syndrome, which is characterized by neonatal diabetes, pancreatic hypoplasia, gastrointestinal atresias, and gall bladder agenesis[1][3]. RFX6 functions primarily by binding DNA at X-box motifs and forms heterodimers with other RFX family transcription factors to drive islet cell fate and hormone secretion[3][2][4]. There are currently no approved therapeutics that directly target RFX6, but its mutation status serves as a genetic biomarker for specific forms of monogenic diabetes[1][3][4].

Other names

DNA-binding protein RFX6RFXDC1MGC33442dJ955L16.1Regulatory factor X domain-containing protein 1