Nov 19, 2019
ring finger protein 13
The RNF13 gene codes for a protein in the PA-TM-RING protein family. It associates with and promotes activation of IRE1a and is an important mediator of endoplasmic reticulum (ER) stress response and the apoptosis pathway (Edvardson et al., 2019).
A de novo change in this gene was identified in a UDN participant.
Changes in this gene have also been associated with Epileptic encephalopathy, early infantile, 73 (OMIM 618379).
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