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| http://purl.uniprot.org/citations/11041359 | http://www.w3.org/2000/01/rdf-schema#comment | "Hermansky-Pudlak Syndrome (HPS) is a group of related multigenic recessively inherited disorders which causes abnormalities in the biosynthesis and/or function of three related organelles; melanosomes, platelet-dense granules and lysosomes. These lead, in turn, to hypopigmentation, prolonged bleeding and ceroid deposition. Positional cloning strategies have identified five mouse HPS genes. Two orthologous human diseases (HPS1 and HPS2) have likewise been identified. At least four of the five mouse genes encode proteins involved in the regulation of intracellular vesicle trafficking. The pearl (HPS2) and mocha genes encode the beta3A and delta subunits, respectively, of the AP-3 adaptor complex, which captures organelle membrane proteins at the trans-Golgi apparatus. The protein products of the pallid and gunmetal genes are also important components of the vesicular trafficking machinery. The former interacts with a t-SNARE, syntaxin13, and the latter is the alpha subunit of Rab geranylgeranyltransferase, which renders Rab proteins sufficiently lipophilic to function at their target membranes. The pale ear (HPS1) gene encodes a ubiquitously expressed protein of unknown function. Recent physiological studies have shown that mouse HPS mutants, like their human HPS counterparts, have variably reduced lifespans and may have lung abnormalities."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.org/dc/terms/identifier | "doi:10.1034/j.1600-0749.13.s8.12.x"xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Feng L."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Li W."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Zhang Q."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Novak E.K."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "Swank R.T."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/author | "McGarry M.P."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/name | "Pigment Cell Res 13 Suppl"xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/pages | "59-67"xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/title | "Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome."xsd:string |
| http://purl.uniprot.org/citations/11041359 | http://purl.uniprot.org/core/volume | "8"xsd:string |
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