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Pathways

GENE - TERM ANNOTATION REPORT

RGD ID: 1304883
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Clpx
Name: caseinolytic mitochondrial matrix peptidase chaperone subunit X
Acc ID: DOID:9009003
Term: Erythropoietic Protoporphyria 2
Definition: An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)
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)
Clpx ISOCLPX (Homo sapiens)7240710OMIM  
Clpx ISOCLPX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CLPX-related condition | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2PMID:25741868 PMID:28492532 PMID:28874591
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