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This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因编码具有三个不同的酶活性,5,10-亚甲基四氢叶酸脱氢酶,5,10-次甲基四氢叶酸环化和10-甲酰四氢叶酸合成的蛋白质。这些活动的催化在四氢1-碳衍生物,其是用于蛋氨酸,胸苷和嘌呤从头合成底物的相互转换的三个连续的反应之一。三官能酶活性是由两个主要领域,包含脱氢酶和环化活动氨基末端部分和一个更大的合成域赋予的。 [由RefSeq的,2008年7月提供]
MTHFD1基因(以及对应的蛋白质)的细胞分布位置:
MTHFD1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neural tube defect, folate-sensitive | 0.24 | 2 | 2 | CTD_human_UNIPROT |
Neural Tube Defects | 0.13455951 | 5 | 0 | CTD_human_GAD_LHGDN |
Abruptio Placentae | 0.124734064 | 2 | 0 | CTD_human_GAD |
Colorectal Cancer | 0.015016517 | 8 | 8 | BeFree_GAD |
Cleft Palate | 0.009825446 | 4 | 0 | GAD_LHGDN |
Spina Bifida | 0.00973957 | 4 | 14 | BeFree_GAD |
Congenital Heart Defects | 0.007915422 | 5 | 1 | BeFree_GAD |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.007372538 | 4 | 1 | BeFree_GAD |
Rheumatoid Arthritis | 0.007101096 | 3 | 0 | GAD |
Cleft Lip | 0.007101096 | 3 | 0 | GAD |
Premature Birth | 0.007101096 | 3 | 0 | GAD |
Malignant neoplasm of breast | 0.00554839 | 4 | 0 | BeFree_GAD |
Migraine Disorders | 0.005276948 | 3 | 2 | BeFree_GAD |
Malignant neoplasm of lung | 0.005005506 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of prostate | 0.005005506 | 3 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.004734064 | 2 | 0 | GAD |
Inflammation | 0.004734064 | 2 | 0 | GAD |
Down Syndrome | 0.003452799 | 4 | 2 | BeFree_GAD |
Schizophrenia | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Non-Small Cell Lung Carcinoma | 0.002909916 | 2 | 4 | BeFree_GAD |
Malignant neoplasm of ovary | 0.002909916 | 3 | 7 | BeFree_GAD |
Choline Deficiency | 0.00272435 | 1 | 0 | LHGDN |
Bipolar Disorder | 0.002638474 | 2 | 0 | BeFree_GAD |
Abortion, Habitual | 0.002367032 | 1 | 0 | GAD |
Adenocarcinoma | 0.002367032 | 1 | 0 | GAD |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
Connective Tissue Diseases | 0.002367032 | 1 | 0 | GAD |
Mental Depression | 0.002367032 | 1 | 0 | GAD |
Drug Allergy | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
Fetal Growth Retardation | 0.002367032 | 1 | 0 | GAD |
Folic Acid Deficiency | 0.002367032 | 1 | 0 | GAD |
leukemia | 0.002367032 | 1 | 0 | GAD |
Lung Neoplasms | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of stomach | 0.002367032 | 1 | 0 | GAD |
Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Placental Insufficiency | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
Aortic Aneurysm, Abdominal | 0.002367032 | 1 | 0 | GAD |
Thrombophilia | 0.002367032 | 1 | 0 | GAD |
Hyperhomocysteinemia | 0.002367032 | 1 | 0 | GAD |
Infection | 0.002367032 | 1 | 0 | GAD |
Colorectal Carcinoma | 0.000814326 | 3 | 8 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000814326 | 3 | 1 | BeFree |
Cancer of Head and Neck | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 1 | BeFree |
Obesity | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 7 | BeFree |
Anemia, Megaloblastic | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm | 0.000271442 | 1 | 2 | BeFree |
Autistic Disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 1 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukopenia | 0.000271442 | 1 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
Inborn Errors of Metabolism | 0.000271442 | 1 | 0 | BeFree |
Pregnancy Complications | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Migraine with Aura | 0.000271442 | 1 | 0 | BeFree |
Cleft palate with cleft lip | 0.000271442 | 1 | 0 | BeFree |
Common Migraine | 0.000271442 | 1 | 2 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 1 | BeFree |
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