Betaine—homocysteine S-methyltransferase

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betaine-homocysteine S-methyltransferase
BHMT ribbon view.png
Crystal structure of rat liver betaine homocysteine s-methyltransferase.[1]
Identifiers
EC number 2.1.1.5
CAS number Template:CAS
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 / 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 635
HUGO 1047
OMIM 602888
RefSeq NM_001713
UniProt Q93088
Other data
EC number 2.1.1.5
Locus Chr. 5 q13.1-q15
betaine-homocysteine methyltransferase 2
Identifiers
Symbol BHMT2
Entrez 23743
HUGO 1048
OMIM 605932
RefSeq NM_017614
UniProt Q9H2M3
Other data
EC number 2.1.1.5
Locus Chr. 5 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

  1. PDB: 1UMY​; Lua error in package.lua at line 80: module 'strict' not found.
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Further reading

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External links


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