Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''MMADHC''
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 b ...
.
Function
This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of
vitamin B12 metabolism. Vitamin B
12 (cobalamin) is essential for normal development and survival in humans.
Clinical significance
Mutations in this gene cause
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 ...
and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes
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 ...
and
methylcobalamin
Methylcobalamin (mecobalamin, MeCbl, or MeB) is a cobalamin, a form of vitamin B. It differs from cyanocobalamin in that the cyano group at the cobalt is replaced with a methyl group. Methylcobalamin features an octahedral cobalt(III) centre and ...
.
References
External links
GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin MetabolismPDBe-KBprovides an overview of all the structure information available in the PDB for Human Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (MMADHC)
Further reading
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