BHMT2
Description
The BHMT2 (betaine--homocysteine S-methyltransferase 2) is a protein-coding gene located on chromosome 5.
BHMT2 is one of two human isozymes of betaine-homocysteine S-methyltransferase (BHMT), each encoded by a separate gene. While BHMT is primarily found in the liver and kidneys, the tissue distribution of BHMT2 is not well-documented. Mutations in the BHMT gene, though not specifically studied for BHMT2, have been linked to abnormal homocysteine metabolism, potentially contributing to various disorders like vascular disease, autism, schizophrenia, and neural tube defects like spina bifida.
BHMT2 is involved in the regulation of homocysteine metabolism, specifically converting homocysteine to methionine by utilizing S-methylmethionine (SMM) as a methyl donor.
BHMT2 is also known as -.
