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GENE - TERM ANNOTATION REPORT

RGD ID: 1587387
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Usp4
Name: ubiquitin specific peptidase 4
Acc ID: DOID:0111585
Term: carnitine-acylcarnitine translocase deficiency
Definition: A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15363639 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399886 "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)
Usp4 ISOUSP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiencyPMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532
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