Betaine-homocysteine methyltransferase

betaine-homocysteine S-methyltransferase
EC number CAS number IntEnz BRENDA ExPASy KEGG MetaCyc metabolic pathway
PRIAM PDB structures PDBsum
Gene Ontology EGO

In the field of enzymology, a betaine-homocysteine S-methyltransferase also known as betaine-homocysteine methyltransferase (BHMT) is a zinc metallo-enzyme that catalyzes the transfer of a methyl group from betaine to homocysteine to produce dimethylglycine and methionine respectively:[2]

  • betaine + homocysteine → dimethylglycine + methionine

This enzyme belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. This enzyme participates in the metabolism of glycine, serine, threonine and also methionine.

Isozymes

In humans, there are two isozymes, BHMT[3][4] and BHMT2,[5][6] each encoded by a separate gene.

betaine-homocysteine methyltransferase
Identifiers
Symbol BHMT
Entrez HUGO OMIM RefSeq UniProt EC number Locus q13.1-q15
betaine-homocysteine methyltransferase 2
Identifiers
Symbol BHMT2
Entrez HUGO OMIM RefSeq UniProt EC number Locus q13

Tissue distribution

BHMT is expressed most predominantly in the liver and kidney.[7]

Clinical significance

Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida.

See also

References

Further reading

External links

  • Medical Subject Headings (MeSH)
  • 2.1.1.5