EDEM1

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Description

The EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1) is a protein-coding gene located on chromosome 3.

EDEM1 (ER degradation-enhancing alpha-mannosidase-like 1) is an enzyme encoded by the EDEM1 gene in humans.

EDEM1 extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It plays a direct role in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation independently of N-glycans, possibly by forming a complex with SEL1L. It exhibits low mannosidase activity, facilitating the removal of mannose from Man8GlcNAc2 to Man7GlcNAc2.

EDEM1 is also known as EDEM.

Associated Diseases

• macrothrombocytopenia, isolated, 2, autosomal dominant
• thrombocytopenia 4
• platelet-type bleeding disorder 15
• autosomal dominant macrothrombocytopenia
• bleeding disorder, platelet-type, 24
• platelet-type bleeding disorder 10
• thrombocytopenia 2
• thrombocytopenia 7
• DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
• substance abuse
• autosomal dominant nonsyndromic hearing loss 1
• beta-thalassemia-X-linked thrombocytopenia syndrome
• thrombocytopenia 3