DISEASES

Disease-gene associations mined from literature

Literature associating RNF186 and autosomal dominant adult-onset proximal spinal muscular atrophy

RNF186 [ENSP00000364263]

E3 ubiquitin-protein ligase RNF186; E3 ubiquitin protein ligase that is part of an apoptotic signaling pathway activated by endoplasmic reticulum stress . In that process, stimulates the expression of proteins specific of the unfolded protein response (UPR), ubiquitinates BNIP1 and regulates its localization to the mitochondrion and induces calcium release from the endoplasmic reticulum that ultimately leads to cell apoptosis .

Synonyms:  RNF186,  RNF186p,  hRNF186,  Q9NXI6,  Q9NXI6p ...

Linkouts:  STRING  Pharos  UniProt