5CUZ, 5CV027249109129ENSG00000168288ENSMUSG00000026766Q9H3L0Q99LS1NM_015702NM_133839NM_001348198NM_001348199NM_001348200NP_056517NP_598600NP_001335127NP_001335128NP_001335129Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.

[5] 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.

[6] 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.

[5] This article incorporates text from the United States National Library of Medicine, which is in the public domain.