Synonyms:C8orf2, ENTREZ:11160, ER lipid raft associated 2, ERLIN2, Erlin-2, HGNC:1356, MIM:611605, NET32, NM_001003790, NM_001003791, NM_001362878, NM_001362880, NM_007175, NP_001003790, NP_001003791, NP_001349807, NP_001349809, NP_009106, SPFH2, SPG18, XM_006716280, XM_024447058, XP_006716343, XP_024302826
Omim:OMIM:611605
Id:ENSG00000147475
Hgnc:HGNC:1356
Description:ER lipid raft associated 2
This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]