MMACHC Chromosome 1
Metabolism of cobalamin associated C
Upload your DNA to see your personal genotypes for variants in MMACHC.
What This Gene Does
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132763
Associated Conditions (18)
Cobalamin C disease
Inborn genetic diseases
Disorders of Intracellular Cobalamin Metabolism
MMACHC-related disorder
Methylmalonic aciduria
type cblc
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
cblC TYPE
DIGENIC
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
cblC type of combined methylmalonic aciduria and homocystinuria
Abnormality of metabolism/homeostasis
Methylmalonic aciduria and homocystinuria type cblD
Atypical hemolytic-uremic syndrome
See cases
Methylmalonic aciduria and homocystinuria
Homocystinuria
Retinal dystrophy
Key Variants
RS1002571805
Conflicting classifications of pathogenicity
Cobalamin C disease, Cobalamin C disease, Cobalamin C disease
Health Risk
RS1035201847
Conflicting classifications of pathogenicity
Cobalamin C disease, Cobalamin C disease
Health Risk
RS187494806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cobalamin C disease, Inborn genetic diseases
Health Risk
RS192924272
Conflicting classifications of pathogenicity
Cobalamin C disease, Cobalamin C disease
Health Risk
RS199889403
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Inborn genetic diseases
Health Risk
RS200276195
Conflicting classifications of pathogenicity
Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, MMACHC-related disorder
Health Risk
RS200300254
Conflicting classifications of pathogenicity
Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
Health Risk
RS200483477
Conflicting classifications of pathogenicity
Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria
Health Risk
RS201025783
Conflicting classifications of pathogenicity
Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
Health Risk
RS201183360
Conflicting classifications of pathogenicity
Cobalamin C disease, Cobalamin C disease
Health Risk
RS201807738
Conflicting classifications of pathogenicity
Cobalamin C disease, Cobalamin C disease
Health Risk
RS34258482
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, MMACHC-related disorder
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522798359 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522819881 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522820086 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522820330 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522820794 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522820797 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522824447 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522826741 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522826859 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522827017 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522827131 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522827904 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522828214 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS755881820 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS761221416 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS768353633 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS770084300 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1178984269 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS121918241 | Health Risk | Pathogenic | Cobalamin C disease, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, cblC type of combined methylmalonic aciduria and homocystinuria |
| RS121918242 | Health Risk | Pathogenic | Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, MMACHC-related disorder |
| RS1276164380 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1295015390 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1305170860 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1343936481 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1363738186 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1399932916 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1463495909 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162317 | Health Risk | Pathogenic | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC |
| RS1553162786 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162918 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1557607997 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1570829502 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1570833527 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1643668441 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1643682280 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1643683466 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1643683813 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS201266016 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323203 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323575 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323618 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323826 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323872 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323994 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522797763 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522798017 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522819771 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522819783 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522819978 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522820123 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |