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Protein-coding gene in humans From Wikipedia, the free encyclopedia
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]
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Aliases | MMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 611935; MGI: 1923786; HomoloGene: 9248; GeneCards: MMADHC; OMA:MMADHC - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
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