UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5604959
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1634606 Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

Owens, IS, Ritter, JK, Ferreira, P, Yeatman, MT

J. Clin. Invest. 1992
External Reference Information
External Reference
Gene Names
UGT1A1, GNT1, UGT1
Chain
signal peptide:1-25, chain:26-533
Participates
Other forms of this molecule
Modified Residues
Name
Replacement of residues 293 to 360 by MENMELWFSLWDQWSQKFQRRKLWQLLMLWAKSLRQSCGGTLEPDHRILRTTRYLLSGYPKTICLVTR
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)
Cross References
ClinGen
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