Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/HPS4> ?p ?o }
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- HPS4 abstract "Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.In melanocytic cells HPS4 gene expression may be regulated by MITF.".
- HPS4 entrezgene "89781".
- HPS4 wikiPageExternalLink br.fcgi?book=gene&part=hps.
- HPS4 wikiPageID "14879082".
- HPS4 wikiPageLength "6450".
- HPS4 wikiPageOutDegree "3".
- HPS4 wikiPageRevisionID "678850847".
- HPS4 wikiPageWikiLink Gene.
- HPS4 wikiPageWikiLink Microphthalmia-associated_transcription_factor.
- HPS4 wikiPageWikiLink Protein.
- HPS4 wikiPageWikiLinkText "HPS4".
- HPS4 requireManualInspection "no".
- HPS4 summaryText "Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist. In melanocytic cells HPS4 gene expression may be regulated by MITF.".
- HPS4 updateCitations "yes".
- HPS4 updatePage "yes".
- HPS4 updateProteinBox "yes".
- HPS4 updateSummary "yes".
- HPS4 wikiPageUsesTemplate Template:Cite_journal.
- HPS4 wikiPageUsesTemplate Template:Gene-22-stub.
- HPS4 wikiPageUsesTemplate Template:PBB.
- HPS4 wikiPageUsesTemplate Template:PBB_Controls.
- HPS4 wikiPageUsesTemplate Template:PBB_Further_reading.
- HPS4 wikiPageUsesTemplate Template:PBB_Summary.
- HPS4 wikiPageUsesTemplate Template:Refbegin.
- HPS4 wikiPageUsesTemplate Template:Refend.
- HPS4 wikiPageUsesTemplate Template:Reflist.
- HPS4 hypernym Protein.
- HPS4 type Biomolecule.
- HPS4 type Protein.
- HPS4 type Thing.
- HPS4 type Q206229.
- HPS4 type Q8054.
- HPS4 comment "Hermansky-Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome.".
- HPS4 label "HPS4".
- HPS4 sameAs Q18048099.
- HPS4 sameAs m.03h0227.
- HPS4 sameAs Q18048099.
- HPS4 wasDerivedFrom HPS4?oldid=678850847.
- HPS4 isPrimaryTopicOf HPS4.