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MGP000311

Record overview

MGPD IDMGP000311
Gene ID635
SpeciesHomo sapiens (Human)
Gene Namebetaine--homocysteine S-methyltransferase
Gene Symbol BHMT
SynonymsBHMT1; HEL-S-61p;
Alternate namesbetaine--homocysteine S-methyltransferase 1; epididymis secretory sperm binding protein Li 61p;
Chromosome5
Map Location5q14.1
EC Number2.1.1.5;
SummaryThis 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]
OrthologsView orthologs and multiple alignments for BHMT

Proteins

betaine--homocysteine S-methyltransferase 1
Refseq ID:NP_001704
Protein GI:157266337
UniProt ID:Q93088
mRNA ID:NM_001713
Length:406
RefSeq Status:
MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVN
EAACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEYFEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGE
CAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARLKAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCC
GFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEK
QKFKSQ
 
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