| ncRNA Symbol: | ERLIN2 |
| Full Name: | ER lipid raft associated 2 |
| Category: | mRNA |
| Synonyms: | C8orf2|Erlin-2|NET32|SPFH2|SPG18 |
| Chromosome: | chr8 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 37736599 | End Site(bp): | 37759101 | |
| 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. [provided by RefSeq, Feb 2012] |
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