Betaine—homocysteine S-methyltransferase explained

betaine-homocysteine S-methyltransferase
Ec Number:2.1.1.5
Cas Number:9029-78-1
Go Code:0047150

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 trimethylglycine and a hydrogen ion from homocysteine to produce dimethylglycine and methionine respectively:[1]

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[2] [3] and BHMT2,[4] [5] each encoded by a separate gene.

betaine-homocysteine methyltransferase
Caption:Betaine--homocysteine S-methyltransferase 1 homotetramer, Human
Width:270
Hgncid:1047
Symbol:BHMT
Entrezgene:635
Omim:602888
Refseq:NM_001713
Uniprot:Q93088
Ecnumber:2.1.1.5
Chromosome:5
Arm:q
Band:13.1
Locussupplementarydata:-q15
betaine-homocysteine methyltransferase 2
Hgncid:1048
Symbol:BHMT2
Entrezgene:23743
Omim:605932
Refseq:NM_017614
Uniprot:Q9H2M3
Ecnumber:2.1.1.5
Chromosome:5
Arm:q
Band:13

Tissue distribution

BHMT is expressed most predominantly in the liver and kidney.[6]

Clinical significance

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

Further reading

Notes and References

  1. Pajares MA, Pérez-Sala D . Betaine homocysteine S-methyltransferase: just a regulator of homocysteine metabolism? . Cell. Mol. Life Sci. . 63 . 23 . 2792–803 . December 2006 . 17086380 . 10.1007/s00018-006-6249-6 . 10261/13799 . 6076708 . free .
  2. Garrow TA . Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase . J. Biol. Chem. . 271 . 37 . 22831–8 . September 1996 . 8798461 . 10.1074/jbc.271.37.22831. free.
  3. Sunden SL, Renduchintala MS, Park EI, Miklasz SD, Garrow TA . Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene . Arch. Biochem. Biophys. . 345 . 1 . 171–4 . September 1997 . 9281325 . 10.1006/abbi.1997.0246 .
  4. Chadwick LH, McCandless SE, Silverman GL, Schwartz S, Westaway D, Nadeau JH . Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes . Genomics . 70 . 1 . 66–73 . November 2000 . 11087663 . 10.1006/geno.2000.6319 .
  5. Szegedi SS, Castro CC, Koutmos M, Garrow TA . Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase . J. Biol. Chem. . 283 . 14 . 8939–45 . April 2008 . 18230605 . 10.1074/jbc.M710449200 . 2276374 . free .
  6. Sunden SL, Renduchintala MS, Park EI, Miklasz SD, Garrow TA . Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene . Arch. Biochem. Biophys. . 345 . 1 . 171–4 . September 1997 . 9281325 . 10.1006/abbi.1997.0246 .