RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells.

摘要: Development and function of pancreatic β cells involve the regulated activity specific transcription factors. RFX6 is a factor essential for mouse cell differentiation that mutated in monogenic forms neonatal diabetes. However, expression functional roles human cells, especially pathophysiological conditions, are poorly explored. We demonstrate presence adult endocrine cells. Using recently developed line EndoC-βH2, we show regulates insulin gene transcription, content, secretion. Knockdown causes downregulation Ca(2+)-channel genes resulting reduction L-type leads to suppression depolarization-evoked exocytosis. also describe previously unreported homozygous missense mutation (p.V506G) associated with diabetes, which lacks capacity activate promoter increase expression. Our data therefore provide insights understanding certain