BHMT

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]

Description

betaine--homocysteine S-methyltransferase

Protein family

Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

5:q14.1 (79111809 - 79132288)

Ensembl ID

ENSG00000145692  (ver. 99.38)

Orthologs

-

UniProt

Q93088

neXtProt

NX_Q93088

Human splice variants