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Aliases for MTR Gene

Aliases for MTR Gene

  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase 2 3 5
  • Vitamin-B12 Dependent Methionine Synthase 3 4
  • EC 2.1.1.13 4 61
  • MS 3 4
  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase 1 3
  • 5-Methyltetrahydrofolate--Homocysteine Methyltransferase 4
  • Cobalamin-Dependent Methionine Synthase 3
  • 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 Neural Tube Defects, Folate-Sensitive. Among its related pathways are One carbon pool by folate and Diseases of metabolism. GO annotations related to this gene include cobalamin binding and methionine synthase activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTR Gene

Genomics for MTR Gene

Regulatory Elements for MTR Gene

Enhancers for MTR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G235931 1.7 Ensembl ENCODE dbSUPER 68.5 -861.6 -861563 3.0 CREB3L1 FEZF1 YBX1 YY1 ZNF143 ZNF416 ZNF548 MCM3 SP3 TBX21 ENSG00000273058 ENSG00000230325 RPS21P1 HEATR1 MTR GGPS1 TBCE LYST RNU5E-2P GNG4
GH01G235936 1.9 FANTOM5 Ensembl ENCODE dbSUPER 58.9 -855.4 -855375 4.0 PKNOX1 ARNT ZNF133 ZNF493 GLI4 YBX1 ZNF2 TCF12 ZNF121 ZNF302 ENSG00000273058 ENSG00000230325 RPS21P1 HEATR1 MTR TBCE GGPS1 LYST GNG4 RNU5E-2P
GH01G235916 2 FANTOM5 Ensembl ENCODE dbSUPER 43.5 -873.8 -873829 8.6 HDGF FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 ZNF207 ZNF548 ENSG00000273058 ENSG00000230325 MTR RPS21P1 HEATR1 LYST TOMM20 RNU5E-2P TBCE GNG4
GH01G235862 2 FANTOM5 Ensembl ENCODE dbSUPER 31.4 -928.7 -928654 7.0 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF548 ENSG00000273058 ENSG00000230325 RPS21P1 HEATR1 MTR LYST GGPS1 RNU6-968P TBCE LDHAP2
GH01G235907 1.6 Ensembl ENCODE dbSUPER 31.4 -883.1 -883117 6.8 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 ZNF548 FOS SP3 SP5 JUNB ENSG00000273058 MTR ENSG00000230325 RPS21P1 HEATR1 GNG4 LDHAP2 LYST GC01P235916 LOC105373215
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTR on UCSC Golden Path with GeneCards custom track

Promoters for MTR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022398 1397 2600 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 NFYC

Genomic Location for MTR Gene

Chromosome:
1
Start:
236,794,304 bp from pter
End:
236,903,981 bp from pter
Size:
109,678 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=methyl(III)cobalamin; Xref=ChEBI:CHEBI:28115;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    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, posLast=127127, posLast=151151, Lys216, Lys231, Lys685, Lys727, posLast=735735, Lys753, posLast=781781, posLast=789789, posLast=814814, Lys817, Lys823, posLast=865865, posLast=10001000, Lys1127, and posLast=11691169
  • Modification sites at PhosphoSitePlus

Domains & Families for MTR Gene

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

No data available for Gene Families for MTR Gene

Function for MTR Gene

Molecular function for MTR Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine.
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).

Enzyme Numbers (IUBMB) for MTR Gene

Gene Ontology (GO) - Molecular Function for MTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23825108
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0008705 methionine synthase activity IMP 23825108
GO:0008898 S-adenosylmethionine-homocysteine S-methyltransferase 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:

Animal Model Products

CRISPR Products

Inhibitory RNA 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
mitochondrion 2
nucleus 2
lysosome 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
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 IMP 23825108
GO:0009235 cobalamin metabolic process TAS --
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 258
Cyanocobalamin Approved Nutra Target, cofactor 259
L-Methionine Approved Nutra Target, product of 0
Tetrahydrofolic acid Approved Nutra Target, cofactor 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1551

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cob(ii)alamin
  • Co(I)-Cobalamine
  • Cob(2)alamin
  • Cob(II)alamin
  • Cobinamide-Co(1+)
  • Vitamin B12r
14463-33-3
homocysteine
  • (+-)-homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (S)-2-amino-4-mercapto-Butanoic acid
  • 2-Amino-4-mercapto-Butanoate
  • 2-Amino-4-mercapto-Butanoic acid
454-29-5
5-Methyltetrahydropteroyltri-L-glutamate
  • 5-Methyltetrahydropteroyltri-L-glutamic acid
Cob(I)alamin
  • Cob(I)alamin
  • Cyanocobalamin
  • Hydrido-Cobalamin
  • Hydridocobalamin
  • Vitamin B12s
18534-66-2
Pterin
  • 2-Amino-1H-pteridin-4-one
  • 2-Amino-3H-pteridin-4-one
  • 2-Amino-4(1H)-pteridinone
  • 2-Amino-4(3H)-pteridinone
  • 2-Amino-4-hydroxypteridine
2236-60-4
genes like me logo Genes that share compounds with MTR: view

Transcripts for MTR Gene

Unigene Clusters for MTR Gene

5-methyltetrahydrofolate-homocysteine methyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
MTR

Expression for MTR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MTR Gene



Protein tissue co-expression partners for MTR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTR Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia MTR 34 35
  • 89.62 (n)
dog
(Canis familiaris)
Mammalia MTR 34 35
  • 89.14 (n)
rat
(Rattus norvegicus)
Mammalia Mtr 34
  • 88.63 (n)
mouse
(Mus musculus)
Mammalia Mtr 34 16 35
  • 88.55 (n)
oppossum
(Monodelphis domestica)
Mammalia MTR 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTR 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTR 34 35
  • 78.69 (n)
lizard
(Anolis carolinensis)
Reptilia MTR 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488827 34
  • 74.83 (n)
zebrafish
(Danio rerio)
Actinopterygii MTR 35
  • 73 (a)
OneToOne
mtr 34
  • 70.65 (n)
worm
(Caenorhabditis elegans)
Secernentea R03D7.1 36
  • 63 (a)
metr-1 34 35
  • 61.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MHT1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 68 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1103 34
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)

Paralogs for MTR Gene

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

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

No data available for Paralogs for MTR Gene

Variants for MTR Gene

Sequence variations from dbSNP and Humsavar for MTR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121913578 Pathogenic, Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940] 236,895,470(+) CCGCC(C/T)GGCTC reference, missense
rs28933097 Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]
rs121913579 Pathogenic 236,885,202(+) AGGAC(C/G)ATTAT reference, missense
rs121913580 Pathogenic 236,852,578(+) CCTTC(C/T)GAGGA reference, stop-gained
rs121913581 Pathogenic 236,897,020(+) TAACA(G/T)AATCA reference, stop-gained

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)

Relevant External Links for MTR Gene

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

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

Disorders for MTR Gene

MalaCards: The human disease database

(36) MalaCards diseases for MTR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
homocystinuria-megaloblastic anemia, cblg complementation type
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type
neural tube defects, folate-sensitive
  • neural tube defects
vitamin b12 deficiency
  • cobalamin deficiency
homocystinuria
  • cbs deficiency
homocysteinemia
- 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.

Relevant External Links for MTR

Genetic Association Database (GAD)
MTR
Human Genome Epidemiology (HuGE) Navigator
MTR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTR
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 V.B. … Brody L.C. (Mol. Genet. Metab. 2005) 3 4 22 46 64
  2. Cloning, mapping and RNA analysis of the human methionine synthase gene. (PMID: 8968735) Li Y.N. … Kruger W.D. (Hum. Mol. Genet. 1996) 2 3 4 22 64
  3. 5-Methyltetrahydrofolate-homocysteine methyltransferase gene polymorphism (MTR) and risk of head and neck cancer. (PMID: 20490431) Galbiatti A.L. … Goloni-Bertollo E.M. (Braz. J. Med. Biol. Res. 2010) 3 22 46 64
  4. [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. (PMID: 20466634) Liao Y.P. … Zhang D. (Yi Chuan 2010) 3 22 46 64
  5. MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. (PMID: 20310006) de Lima E.L. … Muniz M.T. (Pediatr Blood Cancer 2010) 3 22 46 64

Products for MTR Gene

Sources for MTR Gene

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