MMACHC Chromosome 1
Metabolism of cobalamin associated C
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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 |
|---|---|---|---|
| RS200895671 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS201777449 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323799 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2149323855 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522827461 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS370596113 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease |
| RS371753672 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS372670428 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS376964010 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS556977618 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS574983400 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS745366624 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS752205161 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS764409631 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS768978351 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS771673343 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796051998 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease |