EDEM1

Chr 3

ER degradation enhancing alpha-mannosidase like protein 1

Also known as: EDEM

NCBI Gene: 9695 ENSG00000134109 UniProt: Q92611

EDEM1 encodes an ER-associated degradation (ERAD) protein that extracts misfolded glycoproteins from the calnexin cycle and targets them for degradation, while also having mannosidase activity that trims mannose residues from N-glycans. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, featuring early-onset seizures and severe intellectual disability. The gene shows very low constraint to loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and misfolded protein binding activity. Involved in several processes, including endoplasmic reticulum mannose trimming; positive regulation of retrograde protein transport, ER to cytosol; and protein catabolic process. Located in endoplasmic reticulum quality control compartment. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.09

LOEUF

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Mechanism

Some data sources returned errors (1)