GENE NAME | BHMT |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000145692 |
ENTREZ ID | 635 |
UNIPROT ACCESSION NUMBER | Q93088 |
GO MOLECULAR FUNCTION | transferase activity; zinc ion binding; methyltransferase activity; metal ion binding; betaine-homocysteine S-methyltransferase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-71291; hsa01100; R-HSA-1430728; R-HSA-1614635; hsa00260; R-HSA-6798163; hsa00270 |
3 combinations linked to BHMT | OLI719; OLI726; OLI743 |
2 variants linked to BHMT | BHMT:c.1082G>A, p.Arg361Gln; BHMT:c.595G>A, p.Gly199Ser |
1 disease linked to BHMT | Isolated anencephaly |