Aliases for BHMT2 Gene
External Ids for BHMT2 Gene
Previous GeneCards Identifiers for BHMT2 Gene
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]
GeneCards Summary for BHMT2 Gene
BHMT2 (Betaine--Homocysteine S-Methyltransferase 2) is a Protein Coding gene. Diseases associated with BHMT2 include Orofacial Cleft. Among its related pathways are Metabolism and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include S-adenosylmethionine-homocysteine S-methyltransferase activity and S-methylmethionine-homocysteine S-methyltransferase activity. An important paralog of this gene is BHMT.
UniProtKB/Swiss-Prot for BHMT2 Gene
Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.