DISEASES

Disease-gene associations mined from literature

Literature associating NEUROD1 and retinitis pigmentosa 26

NEUROD1 [ENSP00000295108]

Class A basic helix-loop-helix protein 3; Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity); Basic helix-loop-helix proteins

Synonyms:  NEUROD1,  NEUROD1p,  hNEUROD1,  Q13562,  BHLHA3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM