This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methyla... See more...

Aliases for MTRR Gene

Aliases for MTRR Gene

  • 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase 2 3 5
  • Methionine Synthase Reductase 2 3 4
  • MSR 3 4
  • [Methionine Synthase]-Cobalamin Methyltransferase (Cob(II)Alamin Reducing) 3
  • Methionine Synthase Reductase, Mitochondrial 3
  • EC 1.16.1.8 4
  • CblE 3

External Ids for MTRR Gene

Previous GeneCards Identifiers for MTRR Gene

  • GC05P008057
  • GC05P007901
  • GC05P007921
  • GC05P007922

Summaries for MTRR Gene

Entrez Gene Summary for MTRR Gene

  • This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for MTRR Gene

MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase) is a Protein Coding gene. Diseases associated with MTRR include Homocystinuria-Megaloblastic Anemia, Cble Complementation Type and Neural Tube Defects, Folate-Sensitive. Among its related pathways are One carbon pool by folate and Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding. An important paralog of this gene is NOS3.

UniProtKB/Swiss-Prot Summary for MTRR Gene

  • Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.

Gene Wiki entry for MTRR Gene

Additional gene information for MTRR Gene

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

Genomics for MTRR Gene

GeneHancer (GH) Regulatory Elements for MTRR Gene

Promoters and enhancers for MTRR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J007867 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 764.4 +18.1 18128 3.4 SP1 RBPJ SMARCE1 POLR2A NR2F6 ATF1 FOS CREB1 HCFC1 MYC MTRR FASTKD3 HSALNG0039971 lnc-FASTKD3-2 MIR4458HG lnc-MTRR-9
GH05J007853 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 -0.5 -467 2.2 CTCF ZBTB6 FOXA1 MNT SP1 GLIS2 CEBPA RXRA ZBTB8A ZBTB33 C5orf49 MTRR lnc-MTRR-7 piR-55431 RF00017-4497
GH05J007851 Enhancer 0.7 ENCODE 750.6 +0.7 737 0.2 FOXA1 MNT SP1 CEBPA RXRA GATAD2A FOXA2 JUND PKNOX1 YY1 C5orf49 MTRR lnc-MTRR-7 piR-55431 lnc-FASTKD3-2 FASTKD3
GH05J007852 Enhancer 0.6 ENCODE 750.6 +1.0 1020 0.2 PKNOX1 YY1 DPF2 JUND GATA3 SIN3A ELF1 ZNF687 ZNF335 SMARCE1 C5orf49 MTRR lnc-MTRR-7 piR-55431 lnc-FASTKD3-2 FASTKD3
GH05J008456 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 11.2 +606.6 606627 2.9 ZNF785 ZBTB40 MLX SMARCE1 POLR2A CC2D1A NFYC L3MBTL2 DACH1 ZNF121 LOC100419318 ENSG00000249159 ENSG00000279075 LINC02226 lnc-SEMA5A-11 MTRR MIR4458HG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTRR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTRR gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx3-1
  • Nkx3-1 v1
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for MTRR Gene

Genomic Locations for MTRR Gene
chr5:7,851,186-7,906,025
(GRCh38/hg38)
Size:
54,840 bases
Orientation:
Plus strand
chr5:7,851,299-7,906,138
(GRCh37/hg19)
Size:
54,840 bases
Orientation:
Plus strand

Genomic View for MTRR Gene

Genes around MTRR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MTRR Gene

Proteins for MTRR Gene

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

    Protein Symbol:
    Q9UBK8-MTRR_HUMAN
    Recommended name:
    Methionine synthase reductase
    Protein Accession:
    Q9UBK8
    Secondary Accessions:
    • O60471
    • Q32MA9
    • Q7Z4M8

    Protein attributes for MTRR Gene

    Size:
    698 amino acids
    Molecular mass:
    77674 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MTRR Gene

    Alternative splice isoforms for MTRR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTRR Gene

Post-translational modifications for MTRR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTRR Gene

Domains & Families for MTRR Gene

Gene Families for MTRR Gene

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

Suggested Antigen Peptide Sequences for MTRR Gene

GenScript: Design optimal peptide antigens:
  • Methionine synthase reductase (MTRR_HUMAN)
genes like me logo Genes that share domains with MTRR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MTRR Gene

Function for MTRR Gene

Molecular function for MTRR Gene

UniProtKB/Swiss-Prot Function:
Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [methionine synthase]-methylcob(III)alamin + H(+) + NADP(+) + 2 S-adenosyl-L-homocysteine = 2 [methionine synthase]-cob(II)alamin + NADPH + 2 S-adenosyl-L-methionine; Xref=Rhea:RHEA:23908, Rhea:RHEA-COMP:14714, Rhea:RHEA-COMP:14715, ChEBI:CHEBI:15378, ChEBI:CHEBI:16304, ChEBI:CHEBI:28115, ChEBI:CHEBI:57783, ChEBI:CHEBI:57856, ChEBI:CHEBI:58349, ChEBI:CHEBI:59789; EC=1.16.1.8; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.89 uM for NADPH {ECO:0000269 PubMed:17892308}; KM=3540 uM for NADH {ECO:0000269 PubMed:17892308};
GENATLAS Biochemistry:
5-methyltetrahydrofolate-homocysteine methyltransferase reductase,77kDa,sulfur aminoacid metabolism,with homology to cytochrome p450 reductase and C elegans methionine synthase reductase,activating cobalamin-dependent methionine synthase,risk factor for neural tube defect (combined with low cobalamin)

Enzyme Numbers (IUBMB) for MTRR Gene

Phenotypes From GWAS Catalog for MTRR Gene

Gene Ontology (GO) - Molecular Function for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003958 NADPH-hemoprotein reductase activity IBA,IDA 11466310
GO:0005515 protein binding IPI 17288554
GO:0010181 FMN binding TAS,IEA 9501215
GO:0016491 oxidoreductase activity IBA,IEA 21873635
GO:0016723 oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor IDA 17892308
genes like me logo Genes that share ontologies with MTRR: view
genes like me logo Genes that share phenotypes with MTRR: view

Human Phenotype Ontology for MTRR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MTRR Gene

miRTarBase miRNAs that target MTRR

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MTRR Gene

Localization for MTRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTRR Gene

Isoform B: Cytoplasm.
Isoform A: 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 MTRR gene
Compartment Confidence
cytosol 4
extracellular 2
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IBA 9501215
genes like me logo Genes that share ontologies with MTRR: view

Pathways & Interactions for MTRR Gene

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

Gene Ontology (GO) - Biological Process for MTRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006306 DNA methylation ISS --
GO:0006555 methionine metabolic process TAS 9501215
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IBA,IDA 11466310
genes like me logo Genes that share ontologies with MTRR: view

No data available for SIGNOR curated interactions for MTRR Gene

Drugs & Compounds for MTRR Gene

(20) Drugs for MTRR Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methionine Approved Nutra Target, product of 114
Hydroxocobalamin Approved Pharma Target, other 401
Cyanocobalamin Approved Nutra Target, cofactor 402
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1757
Folic acid Approved, Vet_approved Nutra 4687

(18) Additional Compounds for MTRR 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
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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
Cob(I)alamin
  • Vitamin b-12S
  • Vitamin b12S
  • Cyanocobalamin
  • Hydrido-cobalamin
  • Hydridocobalamin
18534-66-2
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with MTRR: view

Transcripts for MTRR Gene

CRISPR Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - -
SP10: - -
SP11: -
SP12: -
SP13: - - -
SP14: - -

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for MTRR Gene

GeneLoc Exon Structure for
MTRR
ECgene alternative splicing isoforms for
MTRR

Expression for MTRR Gene

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

Protein differential expression in normal tissues from HIPED for MTRR Gene

This gene is overexpressed in Adrenal (59.6).

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



Protein tissue co-expression partners for MTRR Gene

NURSA nuclear receptor signaling pathways regulating expression of MTRR Gene:

MTRR

SOURCE GeneReport for Unigene cluster for MTRR Gene:

Hs.481551

mRNA Expression by UniProt/SwissProt for MTRR Gene:

Q9UBK8-MTRR_HUMAN
Tissue specificity: Found in all tissues tested, particularly abundant in skeletal muscle.

Evidence on tissue expression from TISSUES for MTRR Gene

  • Liver(4.4)
  • Lung(4.3)
  • Nervous system(3.8)
  • Blood(2.3)
  • Intestine(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
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
  • red blood cell
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MTRR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MTRR Gene

Orthologs for MTRR Gene

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

Orthologs for MTRR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTRR 33 32
  • 99.03 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTRR 33 32
  • 84.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTRR 33 32
  • 81.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtrr 32
  • 80.18 (n)
mouse
(Mus musculus)
Mammalia Mtrr 17 33 32
  • 78.88 (n)
oppossum
(Monodelphis domestica)
Mammalia MTRR 33
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTRR 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTRR 33 32
  • 66.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTRR 33
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtrr 32
  • 59.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9723 32
zebrafish
(Danio rerio)
Actinopterygii mtrr 33 32
  • 58.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14882 33 34
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mtrr-1 33 32
  • 44.58 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 33
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 39 (a)
OneToOne
Species where no ortholog for MTRR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 MTRR Gene

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

Paralogs for MTRR Gene

Paralogs for MTRR Gene

Pseudogenes.org Pseudogenes for MTRR Gene

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

Variants for MTRR Gene

Sequence variations from dbSNP and Humsavar for MTRR Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10064631 likely-benign, benign, Disorders of Intracellular Cobalamin Metabolism, not specified, not provided, - 7,885,794(+) C/A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10380 benign, uncertain-significance, not specified, Gastrointestinal stroma tumor, Disorders of Intracellular Cobalamin Metabolism, - 7,897,078(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10520873 benign, Disorders of Intracellular Cobalamin Metabolism 7,901,117(+) T/C 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs114053717 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 7,878,281(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs115253331 uncertain-significance, Disorders of Intracellular Cobalamin Metabolism 7,900,225(+) A/G 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv334n21 CNV gain 19592680
esv2663385 CNV deletion 23128226
esv2729709 CNV deletion 23290073
esv2729710 CNV deletion 23290073
esv3064921 CNV deletion 24192839
nsv4705 CNV insertion 18451855
nsv508345 CNV deletion 20534489
nsv597003 CNV gain 21841781
nsv597005 CNV gain 21841781

Variation tolerance for MTRR Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.52; 97.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTRR Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTRR Gene

MalaCards: The human disease database

(23) MalaCards diseases for MTRR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

MTRR_HUMAN
  • Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]: 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. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. {ECO:0000269 PubMed:10484769, ECO:0000269 PubMed:9501215}. 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:10444342, ECO:0000269 PubMed:12375236}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for MTRR Gene

megaloblastic anemia,developmental delay,hyperhomocysteinemia and hypomathioninemia,cblE complementation group of disorders in folate/cobalamin metabolism

Additional Disease Information for MTRR

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 MTRR: view

Publications for MTRR 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 26 43 56
  2. The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida. (PMID: 17024475) van der Linden IJ … Blom HJ (Journal of molecular medicine (Berlin, Germany) 2006) 3 23 26 43 56
  3. Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients. (PMID: 15612980) Miriuka SG … Cole DE (Transplant international : official journal of the European Society for Organ Transplantation 2005) 3 23 26 43 56
  4. Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population. (PMID: 16268464) Guéant-Rodriguez RM … Gueánt JL (Thrombosis and haemostasis 2005) 3 23 26 43 56
  5. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. (PMID: 9501215) Leclerc D … Gravel RA (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23 56

Products for MTRR Gene

Sources for MTRR Gene