Gene Symbol | RTN2 |
Entrez Gene ID | 6253 |
Full Name | reticulon 2 |
Synonyms | NSP2,NSPL1,NSPLI,SPG12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 12, autosomal dominant, 604805 (3) |