Literature associating ERLIN2 and MASA syndrome
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 ...