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GENE - TERM ANNOTATION REPORT

RGD ID: 1303303
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Elp5
Name: elongator acetyltransferase complex subunit 5
Acc ID: DOID:0080155
Term: very long chain acyl-CoA dehydrogenase deficiency
Definition: A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ "DO" "DO", https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Elp5 ISOELP5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiencyPMID:11590124 PMID:28492532 PMID:9973285
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