DISEASES

Disease-gene associations mined from literature

Literature associating ERLIN2 and hereditary spastic paraplegia 57

ERLIN2 [ENSP00000276461]

Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex.

Synonyms:  ERLIN2,  ERLIN2p,  hERLIN2,  E5RHW4,  E5RJ09 ...

Linkouts:  STRING  Pharos  UniProt  OMIM