Gene: ERLIN2

Alternate names for this Gene: C8orf2|Erlin-2|NET32|SPFH2|SPG18

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.23

Description of this Gene: ER lipid raft associated 2

Type of Gene: protein-coding