Betaine—homocysteine S-methyltransferase
| betaine-homocysteine S-methyltransferase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
 Crystal structure of rat liver betaine homocysteine s-methyltransferase.[1] | |||||||||
| Identifiers | |||||||||
| EC no. | 2.1.1.5 | ||||||||
| CAS no. | 9029-78-1 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
| |||||||||
In 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 trimethylglycine and a hydrogen ion from homocysteine to produce dimethylglycine and methionine respectively:[2]
BHMT belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. It participates in the metabolism of glycine, serine, threonine, and methionine.
Isozymes
[edit | edit source]In humans, there are two isozymes, BHMT[3][4] and BHMT2,[5][6] each encoded by a separate gene.
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Tissue distribution
[edit | edit source]BHMT is expressed most predominantly in the liver and kidney.[7]
Clinical significance
[edit | edit source]Mutations in the BHMT gene are known to exist in humans. Anomalies may influence the metabolism of homocysteine, which is implicated in disorders ranging from vascular disease, autism, and schizophrenia to neural tube birth defects such as spina bifida.
See also
[edit | edit source]References
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Further reading
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
External links
[edit | edit source]- Betaine+Homocysteine+Methyltransferase at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- EC 2.1.1.5
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