MMAB
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Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an
enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''MMAB''
gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.


Function

This gene encodes an enzyme ( cob(I)yrinic acid a,c-diamide adenosyltransferase) that catalyzes the final step in the conversion of vitamin B12 into
adenosylcobalamin Adenosylcobalamin (AdoCbl), also known as coenzyme B12, cobamamide, and dibencozide, is, along with methylcobalamin (MeCbl), one of the biologically active forms of vitamin B12. Adenosylcobalamin participates as a cofactor in radical-mediated 1,2 ...
(AdoCbl), a vitamin B12-containing coenzyme for
methylmalonyl-CoA mutase Methylmalonyl-CoA mutase (, MCM), mitochondrial, also known as methylmalonyl-CoA isomerase, is a protein that in humans is encoded by the ''MUT'' gene. This vitamin B12-dependent enzyme catalyzes the isomerization of methylmalonyl-CoA to succiny ...
.


Clinical significance

Mutations in the gene are the cause of vitamin B12-dependent
methylmalonic aciduria Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to proper ...
linked to the cblB complementation group.


References


External links


GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia

PDBe-KB
provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)


Further reading

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