EDEM1
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
