Rabbit Monoclonal Antibody to Erlin~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]