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 |