RNF13
Description
The RNF13 (ring finger protein 13) is a protein-coding gene located on chromosome 3.
RING finger protein 13 is a protein encoded by the RNF13 gene in humans. It contains a RING zinc finger, a motif known for its role in protein-protein interactions. While its specific function is not fully understood, multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
RNF13 is an E3 ubiquitin-protein ligase that plays a role in regulating cell proliferation, apoptosis, and protein trafficking. It is involved in the ER stress-induced activation of the JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA. RNF13 has been shown to interact with ERN1.
RNF13 is also known as DEE73, EIEE73, RZF.
Associated Diseases
- Developmental and epileptic encephalopathy 73
- RNF13-related severe early-onset epileptic encephalopathy
