MTRR
Chr 5AR5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Also known as: MSR, cblE
The protein regenerates methionine synthase to its functional state, enabling methionine synthesis and supporting folate metabolism and cellular methylation processes. Mutations cause homocystinuria-megaloblastic anemia (cbl E type) and increase susceptibility to neural tube defects through autosomal recessive inheritance. The pathogenic mechanism involves gain-of-function effects that disrupt normal methionine synthesis pathways.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTRR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools