RP9
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.[1]
Function
[edit | edit source]The removal of introns from nuclear pre-mRNAs occurs on a complex called a spliceosome, which is made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. The exact role of PAP-1 in splicing is not fully understood, but it is thought that PAP-1 localizes in nuclear speckles containing the splicing factor SRSF2 and interacts directly with another splicing factor, U2AF35.[2]
Clinical significance
[edit | edit source]Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.[3]
Interactions
[edit | edit source]RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.[2]
References
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Further reading
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