MMADHC

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.

Function

This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of vitamin B₁₂ metabolism. Vitamin B₁₂ is essential for normal development and survival in humans.

Clinical significance

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD, a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.