Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:associatedWith |
gptkb:homocystinuria
cardiovascular disease risk hyperhomocysteinemia |
| gptkbp:biologicalProcess |
homocysteine metabolism
folate metabolism |
| gptkbp:cofactor |
gptkb:FAD
|
| gptkbp:discoveredIn |
gptkb:human
|
| gptkbp:EC_number |
1.5.1.20
|
| gptkbp:encodedBy |
MTHFR gene
|
| gptkbp:fullName |
methylenetetrahydrofolate reductase
|
| gptkbp:function |
catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
|
| gptkbp:hasPolymorphism |
A1298C
C677T |
| https://www.w3.org/2000/01/rdf-schema#label |
MTHFR enzyme
|
| gptkbp:location |
gptkb:cytoplasm
|
| gptkbp:product |
5-methyltetrahydrofolate
|
| gptkbp:requires |
remethylation of homocysteine to methionine
|
| gptkbp:significance |
mutations can affect response to folic acid
mutations can lead to neural tube defects |
| gptkbp:substrate |
gptkb:5,10-methylenetetrahydrofolate
|
| gptkbp:bfsParent |
gptkb:Methyltetrahydrofolate
|
| gptkbp:bfsLayer |
7
|