IRF2BPL
Description
The IRF2BPL (interferon regulatory factor 2 binding protein like) is a protein-coding gene located on chromosome 14.
The IRF2BPL gene encodes a protein that plays a role in regulating the immune system and brain function. Mutations in this gene can cause NEDAMSS syndrome, a rare neurological disorder characterized by developmental delays, movement problems, speech loss, and seizures.
IRF2BPL is a probable E3 ubiquitin protein ligase that plays a role in the proteasome-mediated ubiquitin-dependent degradation of target proteins. It negatively regulates the Wnt signaling pathway by degrading CTNNB1, acting downstream of FOXF2. Additionally, IRF2BPL is involved in the development and maintenance of the central nervous system. It also functions as a transcriptional regulator of genes controlling female reproductive function, possibly by transactivating GNRH1 promoter and repressing PENK promoter.
IRF2BPL is also known as C14orf4, EAP1, NEDAMSS.
