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. [provided by RefSeq, May 2010]
Forensic Context
A study in humans demonstrated that the BHMT2 gene was downregulated in subcutaneous adipose tissue during both short-term (0-5 months) and long-term (0-12 months) weight loss interventions in obese participants, and this downregulation was associated with lipid metabolism [Bollepalli et al. DOI:10.1038/ijo.2017.245].