Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''MMAB''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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 one of the biologically active forms of vitamin B12.
Adenosylcobalamin participates as a cofactor in radical-mediated 1,2-carbon skeleton rearrangements. T ...
(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 succin ...
.
Clinical significance
Mutations in the gene are the cause of vitamin B
12-dependent
methylmalonic aciduria 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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