QuickView for BHMT2 (gene)

Gene Symbol:

BHMT2 Homo sapiens

Full name:

betaine--homocysteine S-methyltransferase 2

Synonyms:

S-methylmethionine--homocysteine S-methyltransferase BHMT2, SMM-hcy methyltransferase, betaine-homocysteine methyltransferase 2

Genomic Location:

Chr 5: 78401339-78421045

Description:

Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases th...

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Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGGCGGR_SP1_Q6

Cytogenetic Map:

5q14.1

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