MTHFD1 across dismech

MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) is named by 1 disorder entry, MTHFD1 Deficiency.

Normal function

ai-gene-review gives MTHFD1's core molecular functions as methylenetetrahydrofolate dehydrogenase (NADP+) activity; methenyltetrahydrofolate cyclohydrolase activity; and formate-tetrahydrofolate ligase activity, acting in tetrahydrofolate interconversion. The trifunctional cytosolic enzyme loads formate onto tetrahydrofolate and interconverts the one-carbon carrier states used for purine, thymidylate and methionine synthesis.

Causative record

MTHFD1 Deficiency types MTHFD1 as causative, with a germline variant origin, and places it on the node MTHFD1 Trifunctional Enzyme Loss of Function. ClinGen rates the relationship definitive.

Where the layers meet

The gene's KB node lists the same three activities as the gene review. That node carries molecular functions only, so the two layers share 0 GO process terms by identifier; the entry's downstream nodes use one-carbon metabolic process and tetrahydrofolate metabolic process, which are broader than tetrahydrofolate interconversion.