Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.
This gene encodes a
mitochondrial protein that is involved in an early step of vitamin B metabolism. Vitamin B 12 12 (cobalamin) is essential for normal development and survival in humans.
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.
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