MMADHC
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Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.[1]
Function
[edit | edit source]This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans.[2]
Clinical significance
[edit | edit source]Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.[1]
References
[edit | edit source]External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism
- PDBe-KB provides 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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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
