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GENE - TERM ANNOTATION REPORT

RGD ID: 3262
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pc
Name: pyruvate carboxylase
Acc ID: DOID:3651
Term: pyruvate carboxylase deficiency disease
Definition: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)
Definition Source(s): http://omim.org/entry/266150 "DO" "DO", https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-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)
Pc ISOPC (Homo sapiens)737741RGDDNA:missense mutations:cds:p.A650T, p.M743I (human) 
Pc ISOPC (Homo sapiens)7240710OMIM  
Pc ISOPC (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pc ISOPC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pyruvate carboxylase deficiencyPMID:12112657 PMID:16199547 PMID:17576681 PMID:18676167 PMID:19306334 PMID:23430542 PMID:23973720 PMID:25058219 PMID:25741868 PMID:27290639 PMID:28492532 PMID:28649521 PMID:28831725 PMID:30045381 PMID:30870574 PMID:32581362 PMID:32901917 PMID:35782291 PMID:37207470 PMID:9536098 PMID:9585002 PMID:9585612
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