DISEASES

Disease-gene associations mined from literature

Literature associating DERL1 and cystic fibrosis

DERL1 [ENSP00000259512]

Degradation in endoplasmic reticulum protein 1; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein. Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation; Belongs to the derlin family.

Synonyms:  DERL1,  DERL1p,  hDERL1,  A0A024R9G3,  B4E1G1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM