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gene: RTN2

id6253
symbolRTN2
organismHomo sapiens
full namereticulon 2
summaryThis 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]
variant-disease

NM_005619.4(RTN2):c.939del (p.Thr314Leufs) AND Spastic paraplegia 12

NM_005619.4(RTN2):c.351A>G (p.Gln117=) AND not specified

NM_005619.4(RTN2):c.79+7G>T AND not specified

NM_005619.4(RTN2):c.792C>A (p.Phe264Leu) AND not specified

NM_005619.4(RTN2):c.560-1G>T AND not specified

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