DISEASES

Disease-gene associations mined from literature

Literature associating SEL1L and Good syndrome

SEL1L [ENSP00000337053]

Sel-1 suppressor of lin-12-like (C. elegans); Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling.

Synonyms:  SEL1L,  SEL1Lp,  hSEL1L,  G3V3B3,  Q9UBV2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM