| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4524 |
Name | MTHFR |
Synonym | -;methylenetetrahydrofolate reductase (NAD(P)H);MTHFR;methylenetetrahydrofolate reductase (NAD(P)H) |
Definition | 5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase |
Position | 1p36.3 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | One carbon pool by folate;KEGG PATHWAY;hsa00670 |
Pathway | Metabolism of vitamins and cofactors;Reactome;REACT:11193 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | folate transformations;BioCyc;PWY-2201 |
Disease | Vascular disease, susceptibility to;OMIM |
Disease | Cardiovascular disease;FunDO |
Disease | Anemia;GAD |
Disease | Drug Hypersensitivity;GAD |
Disease | Cancer;FunDO |
Disease | spinal bone mineral density;GAD |
Disease | Down syndrome;FunDO |
Disease | DEVELOPMENTAL;GAD |
Disease | Depression;FunDO |
Disease | Glaucoma;FunDO |
Disease | plasma homocysteine levels;GAD |
Disease | migraine risk;GAD |
Disease | gastric cardia cancer;GAD |
Disease | coke-oven toxicity;GAD |
Disease | Attention deficit hyperactivity disorder;FunDO |
Disease | PSYCH;GAD |
Disease | Longer telomeres at low folate nutritional status;GAD |
Disease | Stroke;GAD |
Disease | Cleft palate;FunDO |
Disease | cerebrovascular disease;GAD |
Disease | late-onset Alzheimer's disease.;GAD |
Disease | Hyperhomocysteinemia;FunDO |
Disease | multiple sclerosis;GAD |
Disease | Osteoporosis;GAD |
Disease | smoking;GAD |
Disease | Infertility;FunDO |
Disease | Antiphospholipid syndrome;FunDO |
Disease | myocardial infarct;GAD |
Disease | pregnancy loss, recurrent;GAD |
Disease | Eclampsia;GAD |
Disease | cervical artery dissection, spontaneous;GAD |
Disease | cardiovascular;GAD |
Disease | Migraine;FunDO |
Disease | sickle cell anemia;GAD |
Disease | Homocystinuria due to MTHFR deficiency;OMIM |
Disease | pregnancy loss;GAD |
Disease | Thrombosis;GAD |
Disease | Ulcerative colitis;FunDO |
Disease | Takayasu's arteritis;FunDO |
Disease | stroke, ischemic;GAD |
Disease | Chronic rejection of renal transplant;FunDO |
Disease | atherosclerosis, coronary;GAD |
Disease | Brain Ischemia;GAD |
Disease | cardiovascular disease;GAD |
Disease | omphalocele;GAD |
Disease | Vitamin B 12 Deficiency;GAD |
Disease | Nervous System Diseases;GAD |
Disease | Cirrhosis;FunDO |
Disease | Thromboembolism, susceptibility to;OMIM |
Disease | METABOLIC;GAD |
Disease | Virilism;GAD |
Disease | Cardiovascular Diseases;GAD |
Disease | preeclampsia;GAD |
Disease | Abruptio Placentae;GAD |
Disease | homocysteine;GAD |
Disease | reduced risk of osteoporotic fractures case control study;GAD |
Disease | systolic blood pressure;GAD |
Disease | Bipolar disorder;FunDO |
Disease | IMMUNE;GAD |
Disease | Abortion;FunDO |
Disease | Osteoporosis;FunDO |
Disease | liver cancer;GAD |
Disease | schizophrenia;GAD |
Disease | diabetic nephropathy;GAD |
Disease | Plasma homocysteine;NHGRI |
Disease | Abruption placentae;FunDO |
Disease | Cleft lip/palate, susceptibility to;OMIM |
Disease | folate homocysteine;GAD |
Disease | Hyperuricemia;FunDO |
Disease | Gastritis, Atrophic;GAD |
Disease | arsenic metabolism;GAD |
Disease | Atrial Fibrillation;GAD |
Disease | Hyperhomocysteinemia;GAD |
Disease | HEMATOLOGICAL;GAD |
Disease | non-Hodgkin's lymphoma;GAD |
Disease | Glaucoma, Angle-Closure;GAD |
Disease | Arteriopathy;FunDO |
Disease | Hyperglycemia;FunDO |
Disease | thrombosis, deep vein;GAD |
Disease | Asthma;FunDO |
Disease | cholangiocarcinoma homocysteine;GAD |
Disease | Schizophrenia, susceptibility to;OMIM |
Disease | Infertility, Male;GAD |
Disease | acute leukemia;GAD |
Disease | folate homocysteine vitamin B12;GAD |
Disease | Polycystic ovary syndrome;FunDO |
Disease | Huntington disease;FunDO |
Disease | PHARMACOGENOMIC;GAD |
Disease | neural tube defects and preeclampsia;GAD |
Disease | rheumatoid arthritis;GAD |
Disease | Glaucoma, Open-Angle;GAD |
Disease | colorectal cancer;GAD |
Disease | Systolic blood pressure;NHGRI |
Disease | diabetes, type 2;GAD |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Moyamoya disease;FunDO |
Disease | Coronary Artery Disease;GAD |
Disease | Venous Thrombosis;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Schizophrenia;FunDO |
Disease | folate pool;GAD |
Disease | Sickle cell disease;FunDO |
Disease | hyperhomocysteinemia and cardiovascular disease;GAD |
Disease | Budd-Chiari syndrome liver transplant portal vein thrombosis;GAD |
Disease | REPRODUCTION;GAD |
Disease | breast cancer;GAD |
Disease | abdominal aortic aneurysm homocysteine hypertension;GAD |
Disease | Obesity;FunDO |
Disease | kidney transplant complications;GAD |
Disease | stomach cancer;GAD |
Disease | Folic acid deficiency;FunDO |
Disease | Thrombophilia;FunDO |
Disease | oxidative stress;GAD |
Disease | idiopathic deep venous thrombosis;GAD |
Disease | Alzheimer's disease;GAD |
Disease | plasma homocysteine;GAD |
Disease | carotid atherosclerosis;GAD |
Disease | Neural tube defects, susceptibility to;OMIM |
Disease | Hepatitis C;FunDO |
Disease | hemorrhagic and ischemic stroke;GAD |
Disease | obesity;GAD |
Disease | bladder cancer;GAD |
Disease | abdominal aortic aneurysm;GAD |
Disease | Parkinson disease;FunDO |
Disease | alcohol;GAD |
Disease | recurrent early fetal loss;GAD |
Disease | heart anomalies, congenital;GAD |
Disease | Chronic simple glaucoma;FunDO |
Disease | lung cancer;GAD |
Disease | VISION;GAD |
Disease | Aseptic necrosis of bone;FunDO |
Disease | Rheumatoid arthritis;FunDO |
Disease | Liver disease;FunDO |
Disease | Infertility, Male;FunDO |
Disease | thromboembolism, venous;GAD |
Disease | Atrial fibrillation;NHGRI |
Disease | Alzheimer's disease;FunDO |
Disease | Epilepsy;FunDO |
Disease | Spinal dysraphism;FunDO |
Disease | esophageal cancer;GAD |
Disease | Diabetes mellitus;FunDO |
Disease | CHEMDEPENDENCY;GAD |
Disease | mild hyperhomocysteinaemia;GAD |
Disease | Homocystinuria;KEGG DISEASE;H00183 |
Disease | risk of cervical dysplasia;GAD |
Disease | Thalassemia;FunDO |
Disease | CANCER;GAD |
Disease | Cerebrovascular disorder;FunDO |
Disease | Kidney failure;FunDO |
Disease | congenital cardiac malformations;GAD |
Disease | NEUROLOGICAL;GAD |
Disease | leukemia;GAD |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | Down Syndrome;GAD |
Disease | methotrexate toxicity;GAD |
Disease | neural tube defects;GAD |
Disease | RENAL;GAD |
External Links | |
Links to Entrez Gene | 4524 |
Links to all GeneRIF Items | 4524 |
Links to iHOP | 4524 |
Sequence Information | |
Nucleotide Sequence | >4524 : length: 1971 atggtgaacgaagccagaggaaacagcagcctcaacccctgcttggagggcagtgccagc agtggcagtgagagctccaaagatagttcgagatgttccaccccgggcctggaccccgag cggcatgagagactccgggagaagatgaggcggcgattggaatctggtgacaagtggttc tccctggaattcttccctcctcgaactgctgagggagctgtcaatctcatctcaaggttt gaccggatggcagcaggtggccccctctacatagacgtgacctggcacccagcaggtgac cctggctcagacaaggagacctcctccatgatgatcgccagcaccgccgtgaactactgt ggcctggagaccatcctgcacatgacctgctgccgtcagcgcctggaggagatcacgggc catctgcacaaagctaagcagctgggcctgaagaacatcatggcgctgcggggagaccca ataggtgaccagtgggaagaggaggagggaggcttcaactacgcagtggacctggtgaag cacatccgaagtgagtttggtgactactttgacatctgtgtggcaggttaccccaaaggc caccccgaagcagggagctttgaggctgacctgaagcacttgaaggagaaggtgtctgcg ggagccgatttcatcatcacgcagcttttctttgaggctgacacattcttccgctttgtg aaggcatgcaccgacatgggcatcacttgccccatcgtccccgggatctttcccatccag ggctaccactcccttcggcagcttgtgaagctgtccaagctggaggtgccacaggagatc aaggacgtgattgagccaatcaaagacaacgatgctgccatccgcaactatggcatcgag ctggccgtgagcctgtgccaggagcttctggccagtggcttggtgccaggcctccacttc tacaccctcaaccgcgagatggctaccacagaggtgctgaagcgcctggggatgtggact gaggaccccaggcgtcccctaccctgggctctcagcgcccaccccaagcgccgagaggaa gatgtacgtcccatcttctgggcctccagaccaaagagttacatctaccgtacccaggag tgggacgagttccctaacggccgctggggcaattcctcttcccctgcctttggggagctg aaggactactacctcttctacctgaagagcaagtcccccaaggaggagctgctgaagatg tggggggaggagctgaccagtgaagaaagtgtctttgaagtcttcgttctttacctctcg ggagaaccaaaccggaatggtcacaaagtgacttgcctgccctggaacgatgagcccctg gcggctgagaccagcctgctgaaggaggagctgctgcgggtgaaccgccagggcatcctc accatcaactcacagcccaacatcaacgggaagccgtcctccgaccccatcgtgggctgg ggccccagcgggggctatgtcttccagaaggcctacttagagtttttcacttcccgcgag acagcggaagcacttctgcaagtgctgaagaagtacgagctccgggttaattaccacctt gtcaatgtgaagggtgaaaacatcaccaatgcccctgaactgcagccgaatgctgtcact tggggcatcttccctgggcgagagatcatccagcccaccgtagtggatcccgtcagcttc atgttctggaaggacgaggcctttgccctgtggattgagcggtggggaaagctgtatgag gaggagtccccgtcccgcaccatcatccagtacatccacgacaactacttcctggtcaac ctggtggacaatgacttcccactggacaactgcctctggcaggtggtggaagacacattg gagcttctcaacaggcccacccagaatgcgagagaaacggaggctccatga |
Protein Sequence | >4524 : length: 656 MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWF SLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVK HIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHL VNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP |