Gene Symbol | ERLIN2 |
Entrez Gene ID | 11160 |
Full Name | ER lipid raft associated 2 |
Synonyms | C8orf2,Erlin-2,NET32,SPFH2,SPG18 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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 by RefSeq, Feb 2012]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 18, autosomal recessive, 611225 (3) |