MTR

Gene Information
 
Gene Symbol
MTR
 
Aliases
HMAG, MS, cblG
 
Entrez Gene ID
 
Gene Name
5-methyltetrahydrofolate-homocysteine methyltransferase
 
Chromosomal Location
1q43
 
HGNC ID
 
Summary
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. (provided by RefSeq, Jul 2008)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007399 Biological process Nervous system development TAS 8968737
Protein Information
 
Protein Name
Methionine synthase
 
Function
Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity)
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00809 Pterin_bind Pterin binding enzyme
PF02310 B12-binding B12 binding domain
PF02574 S-methyl_trans Homocysteine S-methyltransferase
PF02607 B12-binding_2 B12 binding domain
PF02965 Met_synt_B12 Vitamin B12 dependent methionine synthase, activation domain
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Cardiovascular diseases 18281142
   
References
 
Primary:

Plasma homocysteine concentrations and the single nucleotide polymorphisms in the methionine synthase gene (MTR 2756A>G): Associations with the polycystic ovary syndrome An observational study.

Palep-Singh M, Picton H M, Yates Z R, Barth J H, Balen A H
Department of Gynaecology, Saint Mary's University Teaching Hospital, CMMC NHS Trust, Hathersage Road, Manchester, UK. singhrajpal@hotmail.com
Eur J Obstet Gynecol Reprod Biol. 2008 Jun;138(2):180-6. doi:
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Cardiovascular disease 
SNP in the MTR gene (MTR 2756A>G) 
 
Related 
Caucasian and South Asian-71 women 
Plasma Hcy levels were significantly higher in women with PCOS compared with non-PCOS controls (p=0.05) and in Caucasian women with PCOS compared with Caucasian controls (p=0.04) in the presence of the MTR 2756 AA genotype (wild type). 

 

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