MMACHC Chromosome 1

Metabolism of cobalamin associated C

167 variants 167 Health Risk

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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
RS1002571805	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease, Cobalamin C disease
RS1035201847	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS187494806	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Cobalamin C disease, Inborn genetic diseases
RS192924272	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS199889403	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Inborn genetic diseases
RS200276195	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, MMACHC-related disorder
RS200300254	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
RS200483477	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria
RS201025783	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
RS201183360	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS201807738	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS34258482	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, MMACHC-related disorder
RS372918203	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS373198842	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS377405910	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS398124294	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS550692873	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS557994288	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS563710045	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
RS564280688	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS747214324	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS751236442	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS752665903	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS753855245	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS756980496	Health Risk	Conflicting classifications of pathogenicity	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
RS757033378	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS764969563	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS765769901	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS781527733	Health Risk	Conflicting classifications of pathogenicity	Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS796064513	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, MMACHC-related disorder, Cobalamin C disease
RS955468279	Health Risk	Conflicting classifications of pathogenicity	Cobalamin C disease, Cobalamin C disease
RS1163462384	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS121918243	Health Risk	Likely pathogenic	Cobalamin C disease, Inborn genetic diseases, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1338125377	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162788	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162857	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162868	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162901	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease, Cobalamin C disease
RS1553162931	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162937	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1553162943	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1570829862	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1643666556	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease, Cobalamin C disease
RS1643667928	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS1643677014	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS202000595	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS2149323564	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease, Cobalamin C disease
RS2149323805	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS2522798223	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease
RS2522798233	Health Risk	Likely pathogenic	Cobalamin C disease, Cobalamin C disease

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