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SPFH2 / ERLIN2
ER lipid raft associated 2
SPFH2 / ERLIN2 is 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 Name: | ER lipid raft associated 2 |
| Synonyms: | ERLIN2, C8orf2, Erlin-2, ER lipid raft associated 2, SPFH domain family, member 2, NET32, SPFH2, SPG18 |
| Target Sequences: | NM_007175 NP_009106.1 O94905 |
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