MMACHC
Chr 1ARmetabolism of cobalamin associated C
The protein encoded by MMACHC is involved in the binding and intracellular trafficking of cobalamin (vitamin B12), with its C-terminal region showing similarity to bacterial proteins involved in cobalamin uptake. Mutations cause methylmalonic aciduria and homocystinuria, cblC type, inherited in an autosomal recessive pattern. The pathogenic mechanism involves defective cobalamin processing leading to impaired methylmalonyl-CoA mutase and methionine synthase function.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MMACHC · 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
External Resources
Links to major genomics databases and tools