BHLHE23
Description
The BHLHE23 (basic helix-loop-helix family member e23) is a protein-coding gene located on chromosome 20.
BHLHE23 is thought to act as a transcriptional repressor, potentially influencing the expression of genes critical for the development and upkeep of pancreatic and neuronal cells. It may also play a role in the maturation of rod bipolar cells, a type of retinal neuron.
BHLHE23 is also known as BETA4, BHLHB4, Beta3b, bA305P22.3.
Associated Diseases
- breast cancer
- Bartsocas-Papas syndrome 1
- congenital stationary night blindness
- multiple sclerosis
- night blindness