Protein-coding gene in humans
Methylmalonic 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]
Clinical significance [ edit ]
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000168288 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026766 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B (April 2008). "Gene identification for the cblD defect of vitamin B12 metabolism" . N. Engl. J. Med . 358 (14): 1454–64. doi :10.1056/NEJMoa072200 . PMID 18385497 . S2CID 15107040 .
^ "Entrez Gene: MMADHC Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria" .
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This article incorporates text from the United States National Library of Medicine , which is in the public domain .
Fat soluble vitamins
Water soluble vitamins
Nonvitamin cofactors