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GENE - TERM ANNOTATION REPORT

RGD ID: 1359556
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Itch
Name: itchy E3 ubiquitin protein ligase
Acc ID: DOID:0081034
Term: glutatione synthetase deficiency with 5-oxoprolinuria
Definition: A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/15990954/ "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)
Itch ISOITCH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCYPMID:12638941 PMID:15717202 PMID:28492532
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