NEUROD1


Description

The NEUROD1 (neuronal differentiation 1) is a protein-coding gene located on chromosome 2.

Neurogenic differentiation 1 (Neurod1), also called β2, is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1. In mice, Neurod1 expression is first seen at embryonic day 12 (E12). It is a member of the Neurod family of basic helix-loop-helix (bHLH) transcription factors, composed of Neurod1, Neurod2, Neurod4, and Neurod6. 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 in mouse models and in human clinical patients. Neurod1 is found to convert reactive glial cells into functional neurons in the mouse brain in vivo. In the adult cortex, Neurod1 expression is a marker of mature excitatory pyramidal neurons in the upper-most layers of the cortex. Neurod1 has been shown to interact with MAP3K10, MAFA and Cyclin D1.

NeuroD1 is a transcriptional activator that binds to E-box DNA sequences (5'-CANNTG-3') within gene promoters. It collaborates with the p300/CBP transcription coactivator complex to stimulate the expression of the secretin gene and the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. NeuroD1 plays a crucial role in regulating several cell differentiation pathways, including the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells in the cerebellum and hippocampus, endocrine islet cells in the pancreas, and enteroendocrine cells in the small intestine. It works alongside PAX6 or SIX3 to regulate amacrine cell fate specification. NeuroD1 is also essential for dendrite morphogenesis and maintenance in the cerebellar cortex. It associates with chromatin at enhancer regulatory elements within genes that control key neurogenesis transcription factors.

NEUROD1 is also known as BETA2, BHF-1, MODY6, NEUROD, T2D, bHLHa3.

Associated Diseases


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