EDEM3

Chr 1

ER degradation enhancing alpha-mannosidase like protein 3

Also known as: C1orf22, CDG2V

NCBI Gene: 80267 ENSG00000116406 UniProt: Q9BZQ6

EDEM3 encodes a mannosidase that accelerates endoplasmic reticulum-associated degradation (ERAD) by trimming mannose residues from N-glycans on glycoproteins targeted for proteasomal degradation. No human diseases have been definitively associated with EDEM3 mutations in the current medical literature.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 2V

Clinical highlights

Gene-disease validity (ClinGen)

congenital disorder of glycosylation, type 2v · ARStrongappropriate for clinical testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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