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GENE - TERM ANNOTATION REPORT

RGD ID: 2397
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cpt1b
Name: carnitine palmitoyltransferase 1B
Acc ID: DOID:10581
Term: metachromatic leukodystrophy
Definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO" "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "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)
Cpt1b ISOCPT1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Metachromatic leukodystrophyPMID:10477432 PMID:15211666 PMID:25344692 PMID:28492532 PMID:30057904 PMID:8962139
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