Details for Gene BHMT

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

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