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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

RTN2, DEL AND Spastic paraplegia 12

NM_005619.5(RTN2):c.938dup (p.Thr314fs) AND Spastic paraplegia 12

NM_005619.5(RTN2):c.792C>A (p.Phe264Leu) AND Spastic paraplegia

NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) AND Spastic paraplegia

NM_005619.5(RTN2):c.526C>T (p.Pro176Ser) AND Spastic paraplegia

... 84 more


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