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GENE - TERM ANNOTATION REPORT

RGD ID: 1560603
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Map3k15
Name: mitogen-activated protein kinase kinase kinase 15
Acc ID: DOID:3649
Term: pyruvate decarboxylase deficiency
Definition: A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency "DO" "DO", http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract "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)
Map3k15 ISOMAP3K15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiencyPMID:25741868
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