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ERLIN2

Official Full Name
ER lipid raft associated 2
Organism
Homo sapiens
GeneID
11160
Background
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]
Synonyms
NET32; SPFH2; SPG18; C8orf2; SPG18A; SPG18B; Erlin-2;

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