{"symbol":"ERLIN2","synonyms":["ERLIN-2","SPFH2","SPG18","C8ORF2","NET32"],"name":"ER lipid raft associated 2","description":"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]","ncbiEntrezGeneId":11160,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/11160","proteins":[{"symbol":"ERLN2_HUMAN","href":"/api/1.0/protein/ERLN2_HUMAN"}],"hgncRootFamilies":[]}