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GENE - TERM ANNOTATION REPORT

RGD ID: 733745
Species: Mus musculus
RGD Object: Gene
Symbol: Prdx1
Name: peroxiredoxin 1
Acc ID: DOID:0050715
Term: methylmalonic aciduria and homocystinuria type cblC
Definition: A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)
Definition Source(s): http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "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)
Prdx1 ISOPRDX1 (Homo sapiens)7240710OMIM  
Prdx1 ISOPRDX1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Prdx1 ISOPRDX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblCPMID:17576681 PMID:25741868 PMID:28492532 PMID:29302025 PMID:32099815 PMID:34215320 PMID:35190856 PMID:9536098
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