Disease-gene associations mined from literature

Literature associating ERN1 and Wolfram syndrome

ERN1 [ENSP00000401445]

Serine/threonine-protein kinase/endoribonuclease IRE1; Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads to enzyme auto- activation. The active endoribonuclease domain splices XBP1 mRNA to generate a new C-terminus, converting it into a potent unfolded-protein response transcriptional activator and triggering growth arrest and apoptosis.

Synonyms:  ERN1p,  hERN1,  O75460,  O75460p,  hO75460 ...

Linkouts:  STRING  Pharos  UniProt  OMIM