The derl2 gene encodes a protein involved in endoplasmic reticulum-associated degradation (ERAD), functioning as a part of the ER membrane complex for the recognition and retrotranslocation of misfolde...[+]

The derl2 gene encodes a protein involved in endoplasmic reticulum-associated degradation (ERAD), functioning as a part of the ER membrane complex for the recognition and retrotranslocation of misfolded proteins from the ER lumen to the cytosol for proteasomal degradation. Its expression is detected in the oocyte, early embryo, brain, eye, and spinal cord. The derl2 protein is an integral membrane protein localized to the endoplasmic reticulum membrane. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD