PARK17

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The VPS35 gene at 16q11.2 encodes the 796 amino acid vacuolar protein sorting-associated protein 35. This is a component of the retromer cargo-selective complex (CSC). It helps prevent missorting of transmembrane cargo proteins into the lysosomal degradation pathway with the association of the CSC with the cytoplasmic domain of cargo proteins being predominantly via vacuolar protein sorting-associated protein 35. It is permissive to the retrograde transport of cation-independent mannose-6-phosphate receptor and natural resistance-associated macrophage protein 2. It is also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) and for endosomal localization of WASH complex subunit FAM21C or TBC1 domain family member 5

PARK17 OMIM:614203 is an autosominal dominant form of familial Parkinson's disease caused by D620N mutations (which can be spontaneous) of VPS35. Mean age of onset is about 55 years with a tremor predominant phenotype and good response to levodopa. It appears possible that this mutant impairs the recycling of the D(1A) dopamine receptor (dopamine receptor D1)[1].

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