Betaine-homocysteine methyltransferase

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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

Betaine-homocysteine methyltransferase is a zinc metallo-enzyme that catalyzes the transfer of a methyl group from betaine to homocysteine to produce dimethylglycine and methionine respectively:1

  • betaine + homocysteine → dimethylglycine + methionine

Methionine in turn can donate the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites.

Contents

Isozymes

In humans, there are two isozymes, BHMT23 and BHMT2,45 each encoded by a separate gene.

Tissue distribution

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

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

External links


Wikipedia content modification information:

  • This page was last modified on 27 November 2008, at 19:34.

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