NEUROD1, BHLHA3, NEUROD, Neurogenic differentiation factor 1, NeuroD, NeuroD1, Class A basic helix-loop-helix protein 3, bHLHa3
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008],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.,
