DISEASES

Disease-gene associations mined from literature

Literature associating HERPUD1 and phacolytic glaucoma

HERPUD1 [ENSP00000409555]

Homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1; Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway.

Synonyms:  HERPUD1,  HERPUD1p,  hHERPUD1,  B4DXX2,  B4E3N8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM