MTHFR is a part of pathways acted on by certain drugs, making it a gene of research interest. A threshold of evidence must be reached before research data can be used in patient care. You may need to register to view the pages but registration is free.
Click on the link to view a sample search on this topic. See answer I have recently been diagnosed with the CT heterozygous gene mutation. See answer Have a question? References References. Overview of homocysteine. Dean L. Methylenetetrahydrofolate Reductase Deficiency. Medical Genetics Summaries. Homocystinuria due to deficiency of N 5,10 -Methylenetetrahydrofoloate reductase activity.
Online Mendelian Inheritance in Man. Eur J Med Genet. January ; 58 1 Botto LD, Yang Q. American Journal of Epidemiology. Updated estimates of neural tube defects prevented by mandatory folic Acid fortification - United States, Genet Med. February ; 15 2 American Association for Clinical Chemistry. Varga E and Moll S. Genetics Home Reference. Levin BL, Varga E.
J Genet Couns. Lab Tests Online. Am J Clin Nutr. May 13, ; 6 American Academy of Family Physicians. Tran M and Spencer FA. Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events. American Heart Journal. J Med Genet ; 40 8 — Cleveland Clinic Laboratories. Do you know of a review article? Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families.
Tips for Finding Financial Aid. Contact a health care provider if you have questions about your health. MTHFR gene methylenetetrahydrofolate reductase. From Genetics Home Reference. Health Conditions Related to Genetic Changes Homocystinuria At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. More About This Health Condition.
Anencephaly Some studies have found that variations polymorphisms in the MTHFR gene have been associated with a small increased risk of neural tube defects, a group of birth defects that occur during the development of the brain and spinal cord. Spina bifida Some studies have found that polymorphisms in the MTHFR gene are also associated with a small increased risk of spina bifida, another common type of neural tube defect.
Other disorders Polymorphisms in the MTHFR gene can alter or decrease the activity of methylenetetrahydrofolate reductase, leading to a mild increase of homocysteine in the blood hyperhomocysteinemia. Obstet Gynecol. Epub Feb Am J Epidemiol. Genet Med. Epub Jan 3. Erratum in: Genet Med. J Vasc Surg.
Epub Jan Neurol Res. J Genet Couns. Epub Apr Acta Haematol. Epub Dec 7. Characterization of six novel mutations in the methylenetetrahydrofolate reductase MTHFR gene in patients with homocystinuria. Hum Mutat. Citation on PubMed Trabetti E. J Appl Genet. Methylenetetrahydrofolate reductase gene CT and AC polymorphisms in patients with small cell and non-small cell lung cancer.
Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Esophageal and gastric cardia cancer risk and folate- and vitamin B 12 -related polymorphisms in Linxian, China. Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.
Methylenetetrahydrofolate reductase MTHFR polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Free journal version : [ pdf ] [ DOI ]. MTHFR MTHFR methylenetetrahydrofolate reductase.
MTHFR - chr - 1p MTHFR - 1p Gene Expression Viewer FireBrowse. P [Sequence] [Exons] [Medical] [Publications]. CATH Classification of proteins structures. P Human Protein Atlas [tissue]. One carbon pool by folate. P [protein].
R-HSA [pathway]. MTHFR [hg38]. MTHFR [patients] [syndromes] [variants] [genes]. MTHFR [overview] [genome browser] [tissue] [distribution]. P [Medical]. PA PA Gene References Into Functions Entrez.
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