| GENE NAME | HMBS |
| CHROMOSOME | 11 |
| ENSEMBL ID | ENSG00000256269 |
| ENTREZ ID | 3145 |
| UNIPROT ACCESSION NUMBER | P08397 |
| GO MOLECULAR FUNCTION | hydroxymethylbilane synthase activity; protein binding; transferase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00860; hsa01100; R-HSA-189445; R-HSA-189451; R-HSA-1430728; hsa01240 |
| 3 combinations linked to HMBS | OLI809; OLI807; OLI167 |
| 3 variants linked to HMBS | HMBS:c.422+1G>T, ; HMBS:p.Arg175Trp; HMBS:p.Arg225Gln |
| 2 diseases linked to HMBS | Recurrent exertional rhabdomyolysis; Porphyria |