rs867664324

This variant is located in the EDEM3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Congenital disorder of glycosylation, type 2v

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About EDEM3

Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]

View all EDEM3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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