Bhmt Gene Search Result

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Genes search result for Homo sapiens
(View Results for all Objects and Ontologies)

3 records found for search term Bhmt

Refine Term:

Assembly:

Chr

Sort By:

Export

RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1346951	BHMT	betaine--homocysteine S-methyltransferase	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]	5	79111809	79132288	Human	264	symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1352435	BHMT2	betaine--homocysteine S-methyltransferase 2	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 ... (more) 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]	5	79069767	79090069	Human	116	symbol , old_gene_name , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16568551	AC022709.1	betaine--homocysteine S-methyltransferase 2 (BHMT2) pseudogene					Human		name	gene, unprocessed_pseudogene