{"id":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C1336578","synonym":["G4.5","CMD3A","LVNCX","tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)","TAZ_HUMAN","BTHS","TAFAZZIN","XAP-2","EFE2","EFE"],"notation":"C1336578","semanticType":["http://purl.bioontology.org/ontology/STY/T028"],"cui":["C1336578"],"prefLabel":"tafazzin, phospholipid-lysophospholipid transacylase","definition":["The TAFAZZIN gene provides instructions for producing a protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAFAZZIN gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. The tafazzin protein is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. The tafazzin protein adds a fatty acid called linoleic acid to the cardiolipin molecule, which enables cardiolipin to perform its functions. Cardiolipin is necessary for maintaining mitochondrial shape, energy production, and protein transport within cells."],"label":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["G4.5","CMD3A","LVNCX","tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)","TAZ_HUMAN","BTHS","TAFAZZIN","XAP-2","EFE2","EFE"],"http://purl.bioontology.org/ontology/MEDLINEPLUS/DB_XR_ID":["NCBI Gene:6901~OMIM:300394"],"http://purl.bioontology.org/ontology/MEDLINEPLUS/has_associated_condition":["http://purl.bioontology.org/ontology/MEDLINEPLUS/C1960469","http://purl.bioontology.org/ontology/MEDLINEPLUS/C0340427","http://purl.bioontology.org/ontology/MEDLINEPLUS/C0574083"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T028"],"http://www.w3.org/2004/02/skos/core#notation":["C1336578"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T028"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1336578"],"http://www.w3.org/2004/02/skos/core#prefLabel":["tafazzin, phospholipid-lysophospholipid transacylase"],"http://www.w3.org/2004/02/skos/core#definition":["The TAFAZZIN gene provides instructions for producing a protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAFAZZIN gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. The tafazzin protein is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. The tafazzin protein adds a fatty acid called linoleic acid to the cardiolipin molecule, which enables cardiolipin to perform its functions. Cardiolipin is necessary for maintaining mitochondrial shape, energy production, and protein transport within cells."]},"@id":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C1336578","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578","ontology":"https://data.bioontology.org/ontologies/MEDLINEPLUS","children":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/children","parents":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/parents","descendants":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/descendants","ancestors":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/ancestors","instances":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/instances","tree":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/tree","notes":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/notes","mappings":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578/mappings","ui":"http://bioportal.bioontology.org/ontologies/MEDLINEPLUS?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1336578","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fbd5ffec6e8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}