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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''MMADHC''
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 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 acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats. This leads to a buildup of a toxic level of methylmalonic acid in body ...
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 one of the biologically active forms of vitamin B12.
Adenosylcobalamin participates as a cofactor in radical-mediated 1,2-carbon skeleton rearrangements. T ...
and
methylcobalamin
Methylcobalamin (mecobalamin, MeCbl, or MeB) is a cobalamin, a form of vitamin B12, vitamin B. It differs from cyanocobalamin in that the cyanide, cyano group at the cobalt is replaced with a methyl group. Methylcobalamin features an octahedral ...
.
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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