CREBRF
Description
The CREBRF (CREB3 regulatory factor) is a protein-coding gene located on chromosome 5.
CREB3 regulatory factor is a protein encoded by the CREBRF gene in humans.
CREBRF negatively regulates the endoplasmic reticulum stress response, also known as the unfolded protein response (UPR). It inhibits the transcriptional activity of CREB3 during the UPR and facilitates the formation of nuclear foci containing CREB3.
CREBRF is also known as C5orf41, LRF.
Associated Diseases
- 15q11q13 microduplication syndrome
- obesity due to pro-opiomelanocortin deficiency
- severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- obesity due to leptin receptor gene deficiency
