Matches in DBpedia 2014 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 wikiPageRevisionID "591720796".
- HPS4 hasPhotoCollection 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 type Biomolecule.
- HPS4 type Protein.
- HPS4 type BiologicalObject.
- 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 m.03h0227.
- HPS4 sameAs Q5635609.
- HPS4 sameAs Q5635609.
- HPS4 sameAs HPS4.
- HPS4 wasDerivedFrom HPS4?oldid=591720796.
- HPS4 isPrimaryTopicOf HPS4.