MTHFS Chromosome 15
Methenyltetrahydrofolate synthetase
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What This Gene Does
The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Associated Conditions (3)
Neurodevelopmental disorder with microcephaly
epilepsy
and hypomyelination
Key Variants
RS753635972
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Health Risk
RS771379232
Likely pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Health Risk
RS1349638340
Pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Health Risk
RS765726078
Pathogenic
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Health Risk
RS777878165
Pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753635972 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
| RS771379232 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
| RS1349638340 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
| RS765726078 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination |
| RS777878165 | Health Risk | Pathogenic | — |