MTHFR

Gene product: methylenetetrahydrofolate reductase.

Protein function: It can convert 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is a key enzyme in the methionine metabolism process.

Phenotype: Homocystinuria due to MTHFR deficiency (AR) [1].

Mutation database: ClinVar.

References:

1. Mol Genet Metab. 2007 Jun;91(2):165-75.