Details for: MTHFR

Gene ID: 4524

Symbol: MTHFR

Ensembl ID: ENSG00000177000

Description: methylenetetrahydrofolate reductase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 136.4876
    Cell Significance Index: -21.2300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 85.6912
    Cell Significance Index: -21.7400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 56.3300
    Cell Significance Index: -23.2100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 49.0084
    Cell Significance Index: -19.9100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 44.8108
    Cell Significance Index: -23.0500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.9114
    Cell Significance Index: -19.9700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.5084
    Cell Significance Index: -22.8200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.7276
    Cell Significance Index: -23.3800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.8945
    Cell Significance Index: -23.2600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.8342
    Cell Significance Index: -10.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7818
    Cell Significance Index: 24.3100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3344
    Cell Significance Index: 28.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2824
    Cell Significance Index: 98.4100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0571
    Cell Significance Index: 28.3300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9532
    Cell Significance Index: 155.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8879
    Cell Significance Index: 801.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8606
    Cell Significance Index: 24.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8319
    Cell Significance Index: 166.8700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7259
    Cell Significance Index: 43.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6252
    Cell Significance Index: 68.0000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4956
    Cell Significance Index: 25.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4319
    Cell Significance Index: 154.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3650
    Cell Significance Index: 50.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3403
    Cell Significance Index: 23.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3109
    Cell Significance Index: 56.0500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2938
    Cell Significance Index: 5.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2768
    Cell Significance Index: 12.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2685
    Cell Significance Index: 53.2800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2500
    Cell Significance Index: 136.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2443
    Cell Significance Index: 30.0500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.2140
    Cell Significance Index: 3.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1716
    Cell Significance Index: 6.0300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1602
    Cell Significance Index: 10.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1380
    Cell Significance Index: 8.9100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1363
    Cell Significance Index: 13.4800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.1201
    Cell Significance Index: 1.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1194
    Cell Significance Index: 15.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1116
    Cell Significance Index: 21.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0998
    Cell Significance Index: 2.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0959
    Cell Significance Index: 42.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0939
    Cell Significance Index: 4.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0690
    Cell Significance Index: 11.7900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0661
    Cell Significance Index: 41.9800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0586
    Cell Significance Index: 3.9400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0458
    Cell Significance Index: 31.7000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0382
    Cell Significance Index: 71.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0346
    Cell Significance Index: 1.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0288
    Cell Significance Index: 44.3200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0241
    Cell Significance Index: 2.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0176
    Cell Significance Index: 32.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0063
    Cell Significance Index: 2.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0033
    Cell Significance Index: 0.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0017
    Cell Significance Index: 0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0003
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0108
    Cell Significance Index: -8.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0115
    Cell Significance Index: -8.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0153
    Cell Significance Index: -9.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0200
    Cell Significance Index: -14.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0255
    Cell Significance Index: -14.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0284
    Cell Significance Index: -0.5600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0361
    Cell Significance Index: -2.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0533
    Cell Significance Index: -1.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0537
    Cell Significance Index: -11.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0550
    Cell Significance Index: -5.6200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0637
    Cell Significance Index: -7.2700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0668
    Cell Significance Index: -9.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0676
    Cell Significance Index: -19.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0690
    Cell Significance Index: -3.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0753
    Cell Significance Index: -8.7700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0895
    Cell Significance Index: -0.7300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0963
    Cell Significance Index: -11.0300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1209
    Cell Significance Index: -8.5500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1230
    Cell Significance Index: -3.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1262
    Cell Significance Index: -16.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1396
    Cell Significance Index: -8.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1482
    Cell Significance Index: -7.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1521
    Cell Significance Index: -7.1500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1542
    Cell Significance Index: -7.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1763
    Cell Significance Index: -18.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1966
    Cell Significance Index: -10.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1976
    Cell Significance Index: -1.8200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2102
    Cell Significance Index: -3.5400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2285
    Cell Significance Index: -6.5200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2370
    Cell Significance Index: -5.1900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2607
    Cell Significance Index: -20.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3003
    Cell Significance Index: -18.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3019
    Cell Significance Index: -9.6700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3284
    Cell Significance Index: -3.9200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3400
    Cell Significance Index: -8.7400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3487
    Cell Significance Index: -9.3100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3489
    Cell Significance Index: -5.1500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3511
    Cell Significance Index: -3.6400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3564
    Cell Significance Index: -5.9700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3637
    Cell Significance Index: -10.4300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3685
    Cell Significance Index: -9.6900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4168
    Cell Significance Index: -9.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4184
    Cell Significance Index: -7.1700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4264
    Cell Significance Index: -13.5800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.4450
    Cell Significance Index: -6.4000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4462
    Cell Significance Index: -9.4700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** MTHFR is a NADPH-dependent enzyme that catalyzes the reduction of methylenetetrahydrofolate to 5-methyltetrahydrofolate, a crucial step in the folate cycle. This enzyme is essential for the synthesis of purines, thymidylate, and other biomolecules required for DNA synthesis and repair. MTHFR is highly expressed in various tissues, including the brain, heart, and immune cells, suggesting its broad impact on immune function. **Pathways and Functions:** MTHFR participates in several critical metabolic pathways, including: 1. **Homocysteine Metabolism:** MTHFR regulates the conversion of homocysteine to methionine, a process essential for the synthesis of proteins, neurotransmitters, and other biomolecules. 2. **Folate Metabolism:** MTHFR is involved in the conversion of folate to its active forms, which are necessary for DNA synthesis, repair, and methylation. 3. **One-Carbon Metabolism:** MTHFR plays a central role in the transfer of one-carbon units, facilitating the synthesis of purines, thymidylate, and other biomolecules. 4. **Neurotransmitter Synthesis:** MTHFR is involved in the synthesis of neurotransmitters, such as serotonin and dopamine, which are essential for mood regulation, learning, and memory. **Clinical Significance:** MTHFR has significant implications for human health, with variants of the gene associated with an increased risk of: 1. **Cardiovascular Disease:** Elevated homocysteine levels, resulting from MTHFR deficiency, are a major risk factor for cardiovascular disease. 2. **Neurological Disorders:** MTHFR variants have been linked to an increased risk of neurological disorders, such as depression, anxiety, and schizophrenia. 3. **Cancer:** MTHFR plays a role in the regulation of DNA methylation, which is critical for cancer prevention and treatment. 4. **Immune Dysfunction:** MTHFR variants have been associated with impaired immune function, increasing the risk of infections and autoimmune diseases. In conclusion, MTHFR is a critical enzyme that plays a central role in immune function, cardiovascular health, and disease susceptibility. Its variants have significant implications for human health, and understanding its function and regulation is essential for the development of effective therapeutic strategies. **Implications for Immunology:** MTHFR has significant implications for immunology, particularly in the context of: 1. **Immune Cell Function:** MTHFR regulates the metabolism of homocysteine and folate, which are essential for immune cell function and development. 2. **Innate Immunity:** MTHFR variants have been associated with impaired innate immune function, increasing the risk of infections and autoimmune diseases. 3. **Adaptive Immunity:** MTHFR plays a role in the regulation of DNA methylation, which is critical for adaptive immune function and tolerance. In summary, MTHFR is a crucial enzyme that plays a central role in immune function, cardiovascular health, and disease susceptibility. Its variants have significant implications for human health, and understanding its function and regulation is essential for the development of effective therapeutic strategies in immunology.

Genular Protein ID: 2098539589

Symbol: MTHR_HUMAN

Name: N/A

UniProtKB Accession Codes:

P42898 B2R7A6 Q5SNW6 Q5SNW9 Q7Z6M6 Q8IU73 Q9UQR2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 21 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 9 EC 1 EMBL 20 EMDB 3 Ensembl 4 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 10 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9680386

Title: Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR).

PubMed ID: 9680386

DOI: 10.1007/s003359900838

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7920641

Title: Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification.

PubMed ID: 7920641

DOI: 10.1038/ng0694-195

PubMed ID: 7951330

Title:

PubMed ID: 7951330

PubMed ID: 12370778

Title: Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.

PubMed ID: 12370778

DOI: 10.1007/s00335-002-2167-6

PubMed ID: 15729744

Title: A meta-analysis of the MTHFR C677T polymorphism and schizophrenia risk.

PubMed ID: 15729744

DOI: 10.1002/ajmg.b.30170

PubMed ID: 18583979

Title: Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.

PubMed ID: 18583979

DOI: 10.1038/ng.171

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 7726158

Title: Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

PubMed ID: 7726158

PubMed ID: 7564788

Title: Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

PubMed ID: 7564788

DOI: 10.1016/s0140-6736(95)91743-8

PubMed ID: 7647779

Title: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.

PubMed ID: 7647779

DOI: 10.1038/ng0595-111

PubMed ID: 8826441

Title: 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.

PubMed ID: 8826441

DOI: 10.1002/(sici)1096-8628(19960628)63:4<610::aid-ajmg15>3.0.co;2-l

PubMed ID: 8940272

Title: Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

PubMed ID: 8940272

PubMed ID: 8895734

Title: A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.

PubMed ID: 8895734

PubMed ID: 29891918

Title: Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

PubMed ID: 29891918

DOI: 10.1038/s41467-018-04735-2

PubMed ID: 9545406

Title: Worldwide distribution of a common methylenetetrahydrofolate reductase mutation.

PubMed ID: 9545406

DOI: 10.1086/301836

PubMed ID: 9545395

Title: A second mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

PubMed ID: 9545395

DOI: 10.1086/301825

PubMed ID: 9781030

Title: Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

PubMed ID: 9781030

DOI: 10.1038/sj.ejhg.5200182

PubMed ID: 9719624

Title: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

PubMed ID: 9719624

DOI: 10.1006/mgme.1998.2714

PubMed ID: 10323741

Title: Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

PubMed ID: 10323741

DOI: 10.1002/(sici)1096-8628(19990521)84:2<151::aid-ajmg12>3.0.co;2-t

PubMed ID: 10536004

Title: Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.

PubMed ID: 10536004

DOI: 10.1073/pnas.96.22.12810

PubMed ID: 10679944

Title: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

PubMed ID: 10679944

DOI: 10.1002/(sici)1098-1004(200003)15:3<280::aid-humu9>3.0.co;2-i

PubMed ID: 15534175

Title: Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls.

PubMed ID: 15534175

DOI: 10.1001/archneur.61.11.1652

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 20236116

Title: Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

PubMed ID: 20236116

DOI: 10.1111/j.1399-0004.2010.01391.x

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 25736335

Title: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

PubMed ID: 25736335

DOI: 10.1002/humu.22779

Sequence Information:

  • Length: 656
  • Mass: 74597
  • Checksum: F16E774833D054B8
  • Sequence:
    • MVNEARGNSS LNPCLEGSAS SGSESSKDSS RCSTPGLDPE RHERLREKMR RRLESGDKWF 
SLEFFPPRTA EGAVNLISRF DRMAAGGPLY IDVTWHPAGD PGSDKETSSM MIASTAVNYC 
GLETILHMTC CRQRLEEITG HLHKAKQLGL KNIMALRGDP IGDQWEEEEG GFNYAVDLVK 
HIRSEFGDYF DICVAGYPKG HPEAGSFEAD LKHLKEKVSA GADFIITQLF FEADTFFRFV 
KACTDMGITC PIVPGIFPIQ GYHSLRQLVK LSKLEVPQEI KDVIEPIKDN DAAIRNYGIE 
LAVSLCQELL ASGLVPGLHF YTLNREMATT EVLKRLGMWT EDPRRPLPWA LSAHPKRREE 
DVRPIFWASR PKSYIYRTQE WDEFPNGRWG NSSSPAFGEL KDYYLFYLKS KSPKEELLKM 
WGEELTSEES VFEVFVLYLS GEPNRNGHKV TCLPWNDEPL AAETSLLKEE LLRVNRQGIL 
TINSQPNING KPSSDPIVGW GPSGGYVFQK AYLEFFTSRE TAEALLQVLK KYELRVNYHL 
VNVKGENITN APELQPNAVT WGIFPGREII QPTVVDPVSF MFWKDEAFAL WIERWGKLYE 
EESPSRTIIQ YIHDNYFLVN LVDNDFPLDN CLWQVVEDTL ELLNRPTQNA RETEAP

Genular Protein ID: 4062195829

Symbol: Q8IU67_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8IU67 A0A0A6YYS9 A0A0K0K1D6 F6XU28

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 6 HOGENOM 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 PharmGKB 1 ProteomicsDB 1 RefSeq 1 SAM 1 UCSC 1

Citations:

PubMed ID: 12370778

Title: Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.

PubMed ID: 12370778

DOI: 10.1007/s00335-002-2167-6

Sequence Information:

  • Length: 30
  • Mass: 2988
  • Checksum: AEB583C067807DE8
  • Sequence:
    • MVNEARGNSS LNPCLEGSAS SGSESSKDSS

Genular Protein ID: 3428780807

Symbol: Q59GJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59GJ6

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 6 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 5 Gene3D 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 3 RefSeq 1 Rhea 2 RuleBase 1 SAM 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 672
  • Mass: 75049
  • Checksum: D658A6B2D5A0BBBE
  • Sequence:
    • TCHSGVLMCR GCGCLPPDAP CPTLCSRNPA MVNEARGNSS LNPCLEGSAS SGSESSKDSS 
RCSTPGLDPE RHERLREKMR RRLESGDKWF SLEFFPPRTA EGAVNLISRF DRMAAGGPLY 
IDVTWHPAGD PGSDKETSSM MIASTAVNYC GLETILHMTC CRQRLEEITG HLHKAKQLGL 
KNIMALRGDP IGDQWEEEEG GFNYAVDLVK HIRSEFGDYF DICVAGYPKG HPEAGSFEAD 
LKHLKEKVSA GADFIITQLF FEADTFFRFV KACTDMGITC PIVPGIFPIQ GYHSLRQLVK 
LSKLEVPQEI KDVIEPIKDN DAAIRNYGIE LAVSLCQELL ASGLVPGLHF YTLNREMATT 
EVLKRLGMWT EDPRRPLPWA LSAHPKRREE DVRPIFWASR PKSYIYRTQE WDEFPNGRWG 
NSSSPAFGEL KDYYLFYLKS KSPKEELLKM WGEELTSEAS VFEVFVLYLS GEPNRNGHKV 
TCLPWNDEPL AAETSLLKEE LLRVNRQGIL TINSQPNING KPSSDPIVGW GPSGGYVFQK 
AYLEFFTSRE TAEALLQVLK KYELRVNYHL VNVKGENITN APELQPNAVT WGIFPGREII 
QPTVVDPVSF MFWKAHPECE RNGGSMTLRP DALRWSHSCP AFLLHSAASL GNSTLLRVSP 
TPASTPPPDN GS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.