NEUROG3
Function
Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity).
Involvement in disease
Diarrhea 4, malabsorptive, congenital
DIAR4
A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
ATOH5, BHLHA7, NGN3, NEUROG3, Neurogenin-3, NGN-3, Class A basic helix-loop-helix protein 7, Protein atonal homolog 5, bHLHa7