Description
Product Characteristics: Erlin-2, SPFH2, NET32, C8orf2, ER Lipid Raft Associated Protein 2, Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2
Target Information: 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]