Matches in DBpedia 2014 for { <http://dbpedia.org/resource/ASAH1> ?p ?o. }
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- ASAH1 abstract "Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene.This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.".
- ASAH1 entrezgene "427".
- ASAH1 wikiPageID "14773812".
- ASAH1 wikiPageRevisionID "590656004".
- ASAH1 hasPhotoCollection ASAH1.
- ASAH1 requireManualInspection "no".
- ASAH1 summaryText "This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In melanocytic cells ASAH1 gene expression may be regulated by MITF.".
- ASAH1 updateCitations "yes".
- ASAH1 updatePage "yes".
- ASAH1 updateProteinBox "yes".
- ASAH1 updateSummary "yes".
- ASAH1 type Biomolecule.
- ASAH1 type Protein.
- ASAH1 type BiologicalObject.
- ASAH1 comment "Acid ceramidase is an enzyme that in humans is encoded by the ASAH1 gene.This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid.".
- ASAH1 label "ASAH1".
- ASAH1 sameAs m.03gxk4p.
- ASAH1 sameAs Q4654032.
- ASAH1 sameAs Q4654032.
- ASAH1 sameAs ASAH.
- ASAH1 sameAs ASAH1.
- ASAH1 wasDerivedFrom ASAH1?oldid=590656004.
- ASAH1 isPrimaryTopicOf ASAH1.