This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
Forensic Context
A study in mice demonstrated that the BHMT was one of the most expressed genes in liver tissue [Scrivano et al. DOI:10.1007/s00414-019-02125-x], and another investigation in mouse liver showed its expression was commonly up-regulated following in vivo exposure to α-particles from boron neutron capture, as validated by real-time PCR [Roudkenar et al. DOI:10.1269/jrr.07078]. Another systematic review confirmed its investigation as a liver-specific marker for post-mortem interval estimation in mouse models [Cianci et al. DOI:10.3390/ijms25158185].