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 |