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Islets. 2011 Sep-Oct;3(5):291-3. Epub 2011 Sep 1.

RFX6 is needed for the development and maintenance of the β-cell phenotype.

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Departments of Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.


RFX6 has recently been found to be essential for the development of the endocrine pancreas through studies in both humans and mice. Interestingly, this gene maintains a specific expression in the postnatal hormone producing cells of the pancreas. Moreover in humans, different types of diabetes mellitus affect obligate carriers of RFX6 mutations. Therefore, RFX6 appears to have a pivotal role in the maintenance of the phenotype of the β-cells in addition to their development. Extensive research is needed to specify this role and explore its significance in the efforts to treat diabetes with medications, or more importantly, through β-cell replacement.

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