This gene encodes the 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. Alternatively spliced transcript variants encoding distinct iso... See more...

Aliases for MTR Gene

Aliases for MTR Gene

  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase 2 3 5
  • Methionine Synthase 2 3 4
  • Vitamin-B12 Dependent Methionine Synthase 3 4
  • EC 2.1.1.13 4 52
  • MS 3 4
  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase 1 3
  • 5-Methyltetrahydrofolate--Homocysteine Methyltransferase 4
  • Cobalamin-Dependent Methionine Synthase 3
  • HMAG 3
  • CblG 3

External Ids for MTR Gene

Previous GeneCards Identifiers for MTR Gene

  • GC01P235091
  • GC01P232412
  • GC01P233255
  • GC01P233999
  • GC01P233284
  • GC01P235025
  • GC01P236958
  • GC01P207414

Summaries for MTR Gene

Entrez Gene Summary for MTR Gene

  • This gene encodes the 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for MTR Gene

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase) is a Protein Coding gene. Diseases associated with MTR include Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type and Disorders Of Intracellular Cobalamin Metabolism. Among its related pathways are One carbon pool by folate and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include cobalamin binding and methionine synthase activity. An important paralog of this gene is MTHFR.

UniProtKB/Swiss-Prot Summary for MTR Gene

  • 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).

Gene Wiki entry for MTR Gene

Additional gene information for MTR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTR Gene

Genomics for MTR Gene

GeneHancer (GH) Regulatory Elements for MTR Gene

Promoters and enhancers for MTR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTR

Top Transcription factor binding sites by QIAGEN in the MTR gene promoter:
  • CUTL1
  • GATA-2
  • GATA-3
  • ITF-2
  • LCR-F1
  • NCX
  • Sox5
  • Sp1
  • Spz1
  • Tal-1beta

Genomic Locations for MTR Gene

Genomic Locations for MTR Gene
chr1:236,794,304-236,921,278
(GRCh38/hg38)
Size:
126,975 bases
Orientation:
Plus strand
chr1:236,958,581-237,067,281
(GRCh37/hg19)
Size:
108,701 bases
Orientation:
Plus strand

Genomic View for MTR Gene

Genes around MTR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTR Gene

Proteins for MTR Gene

  • Protein details for MTR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99707-METH_HUMAN
    Recommended name:
    Methionine synthase
    Protein Accession:
    Q99707
    Secondary Accessions:
    • A1L4N8
    • A9Z1W4
    • B7ZLW7
    • B9EGF7
    • Q99713
    • Q99723

    Protein attributes for MTR Gene

    Size:
    1265 amino acids
    Molecular mass:
    140527 Da
    Cofactor:
    Name=methylcob(III)alamin; Xref=ChEBI:CHEBI:28115;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer (PubMed:17288554). Dimer (PubMed:17288554). Mainly monomer. Interacts with MTRR (PubMed:17288554).
    Miscellaneous:
    • L-homocysteine is bound via the zinc atom.

    Three dimensional structures from OCA and Proteopedia for MTR Gene

    Alternative splice isoforms for MTR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTR Gene

Selected DME Specific Peptides for MTR Gene

Q99707:
  • PNAGLPN
  • ATVKGDVHDIGKN
  • GLSGLITPSLDEM
  • GLNCALG
  • DGGMGTMIQ
  • DWKPFFDVW
  • GYPSQPDHTEK
  • GIRPAPGYP
  • TFYGLRQQ
  • GKMFLPQV
  • DDYSSIM
  • LDASKSVVVCS
  • KSARVMK
  • EERLEYALVKGIEK
  • VAKEMER
  • DYLGLFA
  • VDILLIETIFDTANAKAALFA
  • SFSFRGMEAIREAMH
  • MGIVNAG
  • SGRTLSGQT
  • HLIPFME
  • IASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISL
  • VVMAFDE
  • AGADIIETNTF
  • DIIFDPNI
  • YFAVGKI
  • DRLAEAFAE

Post-translational modifications for MTR Gene

  • Ubiquitination at Lys16, Lys28, Lys127, Lys151, Lys216, Lys231, Lys685, Lys753, Lys727, Lys781, Lys735, Lys789, Lys814, Lys817, Lys823, Lys865, Lys1000, Lys1127, and Lys1169
  • Modification sites at PhosphoSitePlus

Domains & Families for MTR Gene

Gene Families for MTR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for MTR Gene

Blocks:
  • Homocysteine S-methyltransferase
  • Coenzyme B12-binding
  • Vitamin B12 dependent methionine synthase activation domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTR Gene

GenScript: Design optimal peptide antigens:
  • 5-methyltetrahydrofolate-homocysteine methyltransferase (B1ANE3_HUMAN)
  • cDNA FLJ53729, moderately similar to Methionine synthase (EC 2.1.1.13) (B4DFV0_HUMAN)
  • cDNA FLJ56487, highly similar to Methionine synthase (EC 2.1.1.13) (B4DST3_HUMAN)
  • 5-methyltetrahydrofolate-homocysteine methyltransferase (B7ZLW8_HUMAN)
  • Vitamin-B12 dependent methionine synthase (METH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99707

UniProtKB/Swiss-Prot:

METH_HUMAN :
  • Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine. The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin (By similarity).
  • Belongs to the vitamin-B12 dependent methionine synthase family.
Domain:
  • Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyl transfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-binding domain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine. The B12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under aerobic conditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by S-adenosyl-L-methionine and flavodoxin regenerates methylcobalamin (By similarity).
Family:
  • Belongs to the vitamin-B12 dependent methionine synthase family.
genes like me logo Genes that share domains with MTR: view

Function for MTR Gene

Molecular function for MTR Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine; Xref=Rhea:RHEA:11172, ChEBI:CHEBI:18608, ChEBI:CHEBI:57453, ChEBI:CHEBI:57844, ChEBI:CHEBI:58199; EC=2.1.1.13;.
GENATLAS Biochemistry:
5-methyl tetrahydrofolate (THF),homocysteine methyltransferase,methionine synthase,140kDa,methylcobolamin dependent,sulfur aminoacid metabolism,no evidence of association with neural tube defects (NTD) in Netherlands and U.K.

Enzyme Numbers (IUBMB) for MTR Gene

Phenotypes From GWAS Catalog for MTR Gene

Gene Ontology (GO) - Molecular Function for MTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17288554
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0008705 methionine synthase activity IEA,IMP 23825108
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with MTR: view
genes like me logo Genes that share phenotypes with MTR: view

Human Phenotype Ontology for MTR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTR Gene

MGI Knock Outs for MTR:
  • Mtr Mtr<tm1Lcb>

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for MTR Gene

Localization for MTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTR Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTR gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTR: view

Pathways & Interactions for MTR Gene

genes like me logo Genes that share pathways with MTR: view

UniProtKB/Swiss-Prot Q99707-METH_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (MetH route): step 1/1.

Gene Ontology (GO) - Biological Process for MTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0007399 nervous system development TAS 8968737
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA,IMP 23825108
GO:0009235 cobalamin metabolic process TAS,IMP --
genes like me logo Genes that share ontologies with MTR: view

No data available for SIGNOR curated interactions for MTR Gene

Drugs & Compounds for MTR Gene

(42) Drugs for MTR Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, cofactor 409
Methionine Approved Nutra Target, product of 114
Cyanocobalamin Approved Nutra Target, cofactor 410
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1796
Cobalt Approved, Experimental Pharma 198

(34) Additional Compounds for MTR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cob(ii)alamin
  • Co(I)-cobalamine
  • Cob(2)alamin
  • Cobinamide-co(1+)
  • Vitamin b12R
14463-33-3
homocysteine
  • 2-amino-4-Mercaptobutyric acid
  • Hcy
  • 2-amino-4-Mercaptobutyrate
  • (+-)-Homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
454-29-5
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
5-Methyltetrahydropteroyltri-L-glutamate
  • 5-Methyltetrahydropteroyltri-L-glutamic acid
Cob(I)alamin
  • Vitamin b-12S
  • Vitamin b12S
  • Cyanocobalamin
  • Hydrido-cobalamin
  • Hydridocobalamin
18534-66-2
genes like me logo Genes that share compounds with MTR: view

Transcripts for MTR Gene

mRNA/cDNA for MTR Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTR Gene

No ASD Table

Relevant External Links for MTR Gene

GeneLoc Exon Structure for
MTR

Expression for MTR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTR Gene

This gene is overexpressed in Ovary (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTR Gene



Protein tissue co-expression partners for MTR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTR

SOURCE GeneReport for Unigene cluster for MTR Gene:

Hs.498187

mRNA Expression by UniProt/SwissProt for MTR Gene:

Q99707-METH_HUMAN
Tissue specificity: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta. Expressed at lower levels in lung, liver and kidney.

Evidence on tissue expression from TISSUES for MTR Gene

  • Liver(4.5)
  • Nervous system(3.3)
  • Blood(2.4)
  • Intestine(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTR Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MTR: view

No data available for mRNA differential expression in normal tissues for MTR Gene

Orthologs for MTR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTR 31 30
  • 99.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTR 31 30
  • 89.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTR 31 30
  • 89.14 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtr 30
  • 88.63 (n)
mouse
(Mus musculus)
Mammalia Mtr 17 31 30
  • 88.55 (n)
oppossum
(Monodelphis domestica)
Mammalia MTR 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTR 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTR 31 30
  • 78.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTR 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488827 30
  • 74.83 (n)
zebrafish
(Danio rerio)
Actinopterygii MTR 31
  • 73 (a)
OneToOne
mtr 30 30
  • 70.65 (n)
worm
(Caenorhabditis elegans)
Secernentea R03D7.1 32
  • 63 (a)
metr-1 31 30
  • 61.95 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MHT1 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 68 (a)
OneToOne
Cin.1103 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1103 30
Species where no ortholog for MTR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTR Gene

ENSEMBL:
Gene Tree for MTR (if available)
TreeFam:
Gene Tree for MTR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTR: view image

Paralogs for MTR Gene

Paralogs for MTR Gene

(1) SIMAP similar genes for MTR Gene using alignment to 5 proteins:

  • METH_HUMAN
  • B1ANE3_HUMAN
  • B4DFV0_HUMAN
  • B7ZLW7_HUMAN
  • B7ZLW8_HUMAN
genes like me logo Genes that share paralogs with MTR: view

Variants for MTR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
572316 Uncertain Significance: METHYLCOBALAMIN DEFICIENCY, cblG TYPE 236,825,371(+) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
579433 Uncertain Significance: METHYLCOBALAMIN DEFICIENCY, cblG TYPE; Neural tube defects, folate-sensitive 236,852,997(+) A/G MISSENSE_VARIANT
641704 Likely Pathogenic: METHYLCOBALAMIN DEFICIENCY, cblG TYPE 236,825,400(+) G/C SPLICE_DONOR_VARIANT
642565 Uncertain Significance: METHYLCOBALAMIN DEFICIENCY, cblG TYPE 236,829,267(+) T/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
646496 Uncertain Significance: METHYLCOBALAMIN DEFICIENCY, cblG TYPE 236,895,442(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTR Gene

Structural Variations from Database of Genomic Variants (DGV) for MTR Gene

Variant ID Type Subtype PubMed ID
nsv1005877 CNV gain 25217958
nsv428335 CNV gain 18775914
nsv5010 CNV insertion 18451855
nsv5021 CNV deletion 18451855
nsv945385 CNV duplication 23825009

Variation tolerance for MTR Gene

Residual Variation Intolerance Score: 20.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.97; 89.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTR Gene

Human Gene Mutation Database (HGMD)
MTR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTR Gene

Disorders for MTR Gene

MalaCards: The human disease database

(47) MalaCards diseases for MTR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

METH_HUMAN
  • Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. {ECO:0000269 PubMed:8968736, ECO:0000269 PubMed:8968737}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269 PubMed:12375236}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for MTR Gene

methylmalonic acidemia and homocystinuria,megaloblastic anemia with/without the cblG variant,characterized by neonatal seizures,severe developmental delay and hyperhomocysteinemia,cblG complementation groups no evidence of association with neural tube defects (NTD) in Netherlands and U.K.

Additional Disease Information for MTR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTR: view

Publications for MTR Gene

  1. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. (PMID: 15979034) O'Leary VB … Members of the Birth Defects Research Group (Molecular genetics and metabolism 2005) 3 4 23 41 54
  2. Cloning, mapping and RNA analysis of the human methionine synthase gene. (PMID: 8968735) Li YN … Kruger WD (Human molecular genetics 1996) 2 3 4 23 54
  3. The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women. (PMID: 19760026) Tong SY … Kwon YI (Cancer causes & control : CCC 2010) 3 23 41 54
  4. Genetic polymorphisms involved in folate metabolism and concentrations of methylmalonic acid and folate on plasma homocysteine and risk of coronary artery disease. (PMID: 19283448) Biselli PM … Goloni-Bertollo EM (Journal of thrombosis and thrombolysis 2010) 3 23 41 54
  5. [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. (PMID: 20466634) Liao YP … Zhang D (Yi chuan = Hereditas 2010) 3 23 41 54

Products for MTR Gene

Sources for MTR Gene