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UGT1A1 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5605016
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective UGT1A1 causes hyperbilirubinemia (Homo sapiens)
Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL (Homo sapiens)
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG (Homo sapiens)
UGT1A1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
UGT1A1 G309E [endoplasmic reticulum membrane]
(Homo sapiens)
UGT1A1 L15R [endoplasmic reticulum membrane]
(Homo sapiens)
UGT1A1 Q331* [endoplasmic reticulum membrane]
(Homo sapiens)
UGT1A1 R341* [endoplasmic reticulum membrane]
(Homo sapiens)
UGT1A1 S376F [endoplasmic reticulum membrane]
(Homo sapiens)
UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Crigler-Najjar syndrome
DOID:3803
Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome (disorder), Crigler-Najjar syndrome, Crigler-Najjar syndrome, type I (disorder)
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