ERLIN2

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolERLIN2
NameER lipid raft associated 2
Typeprotein-coding
Sourcemygene

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. [provided b

2Connections

This is an externally resolved entity

This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.