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Title: Mmachc  
Author: World Heritage Encyclopedia
Language: English
Subject: Methylmalonic acidemia, Methylmalonyl-CoA mutase
Publisher: World Heritage Encyclopedia


Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Available structures
PDB Ortholog search: RCSB

Methylmalonic aciduria and homocystinuria type C protein also known as MMACHC is a protein that in humans is encoded by the MMACHC gene.[1]


The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake.[1]

Clinical significance

Mutations are associated with methylmalonic acidemia.[1][2][3][4]


Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism
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