MTHFD1 Chromosome 14
Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Upload your DNA to see your personal genotypes for variants in MTHFD1.
What This Gene Does
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]
Gene Info
Gene Group
Minor histocompatibility antigens
Locus Type
gene with protein product
Location
14q23.3
Ensembl
ENSG00000100714
Associated Conditions (7)
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Neural tube defects
folate-sensitive
Spina bifida
susceptibility to
Inborn genetic diseases
Severe combined immunodeficiency disease
Key Variants
RS1031056604
Conflicting classifications of pathogenicity
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS147367593
Conflicting classifications of pathogenicity
Neural tube defects, folate-sensitive, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS2078146524
Conflicting classifications of pathogenicity
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS34181110
Conflicting classifications of pathogenicity
Spina bifida, folate-sensitive, susceptibility to
Health Risk
RS909891224
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1329424461
Likely pathogenic
Neural tube defects, folate-sensitive, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS146862861
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1555336810
Likely pathogenic
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS1555337681
Likely pathogenic
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Health Risk
RS2078116884
Likely pathogenic
Health Risk
RS2140987866
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS2550502656
Likely pathogenic
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1031056604 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS147367593 | Health Risk | Conflicting classifications of pathogenicity | Neural tube defects, folate-sensitive, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS2078146524 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS34181110 | Health Risk | Conflicting classifications of pathogenicity | Spina bifida, folate-sensitive, susceptibility to |
| RS909891224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1329424461 | Health Risk | Likely pathogenic | Neural tube defects, folate-sensitive, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS146862861 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1555336810 | Health Risk | Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS1555337681 | Health Risk | Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS2078116884 | Health Risk | Likely pathogenic | — |
| RS2140987866 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2550502656 | Health Risk | Likely pathogenic | — |
| RS2550504926 | Health Risk | Likely pathogenic | — |
| RS2550508430 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS778570054 | Health Risk | Likely pathogenic | — |
| RS920392170 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS999121868 | Health Risk | Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS1326829113 | Health Risk | Pathogenic | — |
| RS1456143398 | Health Risk | Pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS2078126852 | Health Risk | Pathogenic | — |
| RS2140987898 | Health Risk | Pathogenic | — |
| RS2550501131 | Health Risk | Pathogenic | — |
| RS753965584 | Health Risk | Pathogenic | — |
| RS760889414 | Health Risk | Pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS761741782 | Health Risk | Pathogenic | — |
| RS764919087 | Health Risk | Pathogenic | — |
| RS796064510 | Health Risk | Pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS141210410 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Severe combined immunodeficiency disease, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| RS370444838 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Severe combined immunodeficiency disease, Neural tube defects |
| RS747933171 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Neural tube defects, folate-sensitive |
| RS781065280 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Neural tube defects, folate-sensitive |