Article
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
Human mutation - 1 Jan 2000
Goyette P, Rozen R
Abstract excerpt
Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor for homocysteine remethylation to methionine. Severe MTHFR deficiency is associated with hyperhomocysteinemia and homocystinuria. These patients show a wide variety of neurological and vascular symptoms, with variable age of onset. Residual enzyme activity is usually...
Topics
- Alanine
- Alleles
- Amino Acid Substitution
- Catalytic Domain
- Cytosine
- Enzyme Activation
- Gene Expression Regulation
- Genetic Variation
- Homocystinuria
- Hot Temperature
- Humans
- Methylenetetrahydrofolate Reductase (NADPH2)
- Mutagenesis, Site-Directed
- Mutation, Missense
- Oxidoreductases Acting on CH-NH Group Donors
- Plasmids
- Polymorphism, Genetic
- Thymine