The BHMT gene is a protein-coding gene associated with several metabolic pathways, including the superpathway of choline degradation to L-serine and one-carbon metabolism . The gene is located on chromosome 5 and has several aliases, including BHMT1 and BHMT2 . The enzyme encoded by this gene is involved in the regulation of homocysteine metabolism and is required for the irreversible oxidation of choline .
Defects in the BHMT gene can lead to hyperhomocysteinemia, a condition characterized by elevated levels of homocysteine in the blood . This condition is associated with an increased risk of cardiovascular diseases, including coronary artery disease and stroke. Additionally, BHMT has been implicated in the pathogenesis of neurodegenerative diseases, such as multiple sclerosis (MS), where it plays a role in epigenetic modulation of oligodendrocyte maturation .
The mouse anti-human BHMT antibody is a monoclonal antibody that specifically targets the BHMT enzyme. This antibody is used in various research applications, including immunohistochemistry (IHC) and western blotting, to study the expression and function of BHMT in different tissues . The antibody is highly specific and has been validated for use in detecting BHMT in human samples .
Research into the BHMT-betaine methylation pathway has shown that it epigenetically modulates oligodendrocyte maturation, which is crucial for the development and maintenance of the central nervous system . Studies have demonstrated that betaine, a methyl donor, can increase histone methyltransferase activity by activating chromatin-bound BHMT . This activation leads to changes in gene expression and has potential implications for the treatment of neurodegenerative diseases.