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 B
12-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 B
12-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 AcidemiaPDBe-KBprovides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)
Further reading
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