דלג לתוכן הראשי

metabolism of cobalamin associated C

The MMACHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Normal function

The MMACHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Research indicates that the MMACHC protein plays a role in processing different forms of vitamin B12 so that they can be converted to either of the cofactors, AdoCbl or MeCbl. MMACHC also interacts with another protein called MMADHC (produced from the MMADHC gene). Together these proteins transport the processed vitamin B12 to regions of the cell in which each cofactor is needed: specialized structures that serve as energy-producing centers (the mitochondria), where AdoCbl functions, or the fluid inside the cell (the cytoplasm), where MeCbl functions. Additional chemical reactions then convert vitamin B12 into AdoCbl or MeCbl.

Conditions referring to this gene or chromosome

Other names

cblC

DKFZP564I122

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

methylmalonic aciduria and homocystinuria type C protein

Related patient information and medicines

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Patient information leaflet

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  • 2 אוג 2022 | הגרסה האחרונה
  • 1 Aug 2022 | פורסם במקור

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