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GENE - TERM ANNOTATION REPORT

RGD ID: 735124
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dpagt1
Name: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Acc ID: DOID:3890
Term: acute intermittent porphyria
Definition: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Definition Source(s): MESH:D017118
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)
Dpagt1 ISODPAGT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish typePMID:18414213 PMID:25741868 PMID:28492532
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