• Source: MMACHC

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.




Function


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. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation
of alkylcobalamins including methylcobalamin and adenosylcobalamin. This function has also been attributed to cobalamin reductases. The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.




Clinical significance


Mutations are associated with combined homocystinuria and methylmalonic acidemia.




References






Further reading






External links


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

Kata Kunci Pencarian:

• Metilkobalamin
• Sianokobalamin
• Daftar gen penyandi protein pada manusia/2
• MMACHC
• Methylcobalamin
• Cyanocobalamin
• List of genetic disorders
• Methylmalonic acidemias
• List of human protein-coding genes 2
• Methylmalonyl-CoA mutase
• Nicola Brasch
• Cobalamin biosynthesis
• List of OMIM disorder codes