| GENE NAME | CBS |
| CHROMOSOME | 21 |
| ENSEMBL ID | ENSG00000160200 |
| ENTREZ ID | 875 |
| UNIPROT ACCESSION NUMBER | P35520 |
| GO MOLECULAR FUNCTION | pyridoxal phosphate binding; ubiquitin protein ligase binding; protein binding; cystathionine beta-synthase activity; protein homodimerization activity; modified amino acid binding; heme binding; enzyme binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00260; R-HSA-1614603; R-HSA-2408522; hsa00270; R-HSA-71291; hsa01100; R-HSA-2408508; hsa01230; R-HSA-1430728; R-HSA-1614635 |
| 1 combination linked to CBS | OLI759 |
| 1 variant linked to CBS | CBS:c.1105C>T, p.Arg369Cys |
| 1 disease linked to CBS | Isolated anencephaly |