rs201673840
This variant is located in the EDEM2 gene.
▶ClinVar annotation
About EDEM2
In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
View all EDEM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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