2r17: Difference between revisions
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{{STRUCTURE_2r17| PDB=2r17 | SCENE= }} | {{STRUCTURE_2r17| PDB=2r17 | SCENE= }} | ||
===Functional architecture of the retromer cargo-recognition complex=== | |||
{{ABSTRACT_PUBMED_17891154}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/VPS35_HUMAN VPS35_HUMAN]] Defects in VPS35 are the cause of Parkinson disease type 17 (PARK17) [MIM:[http://omim.org/entry/614203 614203]]. PARK17 is an autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.<ref>PMID:21763482</ref><ref>PMID:21763483</ref><ref>PMID:22517097</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/VPS29_HUMAN VPS29_HUMAN]] Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Has low protein phosphatase activity towards a serine-phosphorylated peptide derived from IGF2R (in vitro).<ref>PMID:15247922</ref> [[http://www.uniprot.org/uniprot/VPS35_HUMAN VPS35_HUMAN]] Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA).<ref>PMID:15247922</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017891154</ref><references group="xtra"/> | <ref group="xtra">PMID:017891154</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bonifacino, J S.]] | [[Category: Bonifacino, J S.]] | ||
