Details for Gene ALAD

GENE NAME ALAD
CHROMOSOME 9
ENSEMBL ID ENSG00000148218
ENTREZ ID 210
UNIPROT ACCESSION NUMBER P13716
GO MOLECULAR FUNCTION metal ion binding; catalytic activity; porphobilinogen synthase activity
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-168249; hsa01240; R-HSA-168256; R-HSA-189451; R-HSA-1430728; hsa00860; hsa01100; R-HSA-189445; R-HSA-6798695
1 combination linked to ALAD OLI001
1 variant linked to ALAD ALAD:c.36C>G, p.Phe12Leu
1 disease linked to ALAD Hereditary coproporphyria

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