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GENE - TERM ANNOTATION REPORT

RGD ID: 1306250
Species: Rattus norvegicus
RGD Object: Gene
Symbol: L2hgdh
Name: L-2-hydroxyglutarate dehydrogenase
Acc ID: DOID:0050573
Term: 2-hydroxyglutaric aciduria
Definition: An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria "DO" "DO", http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "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)
L2hgdh ISOL2HGDH (Homo sapiens)13506814RGDDNA:mutations:exons:c.169G>A,c.542G>T(human) 
L2hgdh ISOL2HGDH (Homo sapiens)13506818RGDDNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)  
L2hgdh ISOL2hgdh (Mus musculus)13506815RGD  
L2hgdh ISOL2HGDH (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15385440 PMID:15548604 PMID:21937992
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