Details for Gene UROD

GENE NAME UROD
CHROMOSOME 1
ENSEMBL ID ENSG00000126088
ENTREZ ID 7389
UNIPROT ACCESSION NUMBER P06132
GO MOLECULAR FUNCTION uroporphyrinogen decarboxylase activity; carboxy-lyase activity; lyase activity; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01240; R-HSA-189451; R-HSA-1430728; R-HSA-189445; hsa00860; hsa01100
1 combination linked to UROD OLI167
1 variant linked to UROD UROD:c.652_653insTT, p.Glu218ValfsTer28
1 disease linked to UROD Porphyria

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