DISEASES

Disease-gene associations mined from literature

Literature associating EDEM1 and acute cor pulmonale

EDEM1 [ENSP00000256497]

ER degradation-enhancing alpha-mannosidase-like protein 1; Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded glycoproteins for degradation in an N-glycan- independent manner, probably by forming a complex with SEL1L. It has low mannosidase activity, catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2. ECO:0000269|PubMed:19524542, ECO:0000269|PubMed:19934218,; Belongs to the glycosyl hydrolase 47 family.

Synonyms:  EDEM1,  EDEM1p,  hEDEM1,  A0A024R2D5,  F8WE67 ...

Linkouts:  STRING  Pharos  UniProt  OMIM