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MTHFD1
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs1076991 | |||
| rs754167241 | |||
| rs770973705 | |||
| rs775263592 | |||
| rs757954455 | |||
| rs1256113 | |||
| rs3020439 | |||
| rs3020440 | |||
| rs3020441 | |||
| rs11158538 | |||
| rs12432825 | |||
| rs12434608 | |||
| rs12587229 | |||
| rs12880360 | |||
| rs12886138 | |||
| rs12888491 | |||
| rs1397494350 | |||
| rs35020344 | |||
| rs7151163 | |||
| rs755907103 |
Summary
The MTHFD1 gene codes for methylenetetrahydrofolate dehydrogenase 1 (MTHFD1). MTHFD1 is an enzyme that helps activate folate in three consecutive reactions. Activated folate is essential for [R, R, R]:
DNA formation
Methionine and choline production
Homocysteine removal
MTHFD1 polymorphisms have been linked to cancer and neural tube defects [R].
Protein names
Found in These Blog Articles
GHR Function
More Information
MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) encodes a protein that possesses three different enzymatic activities (R).
It is associated with higher risk for colon cancer while MTHFD1 deficiency can cause metabolic disorders (R).
From NCBI Gene: Neural tube defects, folate-sensitiveFrom UniProt: Neural tube defects, folate-sensitive (NTDFS): The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. [MIM:601634] Colorectal cancer (CRC): A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. [MIM:114500] MTHFD1 deficiency, due to mutation in this gene, can cause a metabolic syndrome with variable features including hyperhomocysteinemia, megaloblastic anemia, hemolytic uremic syndrome (HUS), severe combined immunodeficiency, microangiopathy and retinopathy. Symptoms improve after treatment with hydroxocobalamin, betaine and folinic acid.
From NCBI Gene: 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]
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