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 |
|---|---|---|---|
| RS2522824468 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522824693 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522826772 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522826850 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522827076 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2522828488 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS398124292 | Health Risk | Pathogenic | Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA |
| RS398124295 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS398124296 | Health Risk | Pathogenic | Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease |
| RS528744719 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS538023671 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS546099787 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS587776889 | Health Risk | Pathogenic | Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease |
| RS606231425 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS746135357 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS747527726 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS747550590 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS749264632 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS755843695 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS756413692 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS757325789 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS758477536 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS759188647 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS765913293 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS765960386 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS773968018 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS777251123 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease, Cobalamin C disease |
| RS779893448 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796051995 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796051996 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796051997 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796051999 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS796052000 | Health Risk | Pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS121918240 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease |
| RS1233135084 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1255179780 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1257204721 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1289618918 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1311416761 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1347498294 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1356587420 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1383465849 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS140522266 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease |
| RS1481893137 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162821 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162910 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162923 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1553162934 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1570829757 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS200094982 | Health Risk | Pathogenic/Likely pathogenic | Cobalamin C disease, Retinal dystrophy, MMACHC-related disorder |