Disease:Defects in NEUROD1 are the cause of maturity onset diabetes of the young type 6 (MODY6) [MIM:606394]. MODY [MIM:606391] is characterized by an autosomal dominant mode of inheritance , onset during young adulthood and a primary defect in insulin secretion. ,Function:Differentiation factor required for dendrite morphogenesis and maintenance in the cerebellar cortex. Transcriptional activator. Binds to the insulin gene E-box. ,PTM:Phosphorylated. In islet cells , phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons , phosphorylated on Ser-335; which promotes dendritic growth. ,similarity:Contains 1 basic helix-loop-helix (bHLH) domain. ,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with TCF3/E47. Interacts with RREB1. ,
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