MMACHC

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.Luciana Hannibal, Jihoe Kim, Nicola E. Brasch, Sihe Wang, David S. Rosenblatt, Ruma Banerjee, and Donald W. Jacobsen (August 2009). [https://www.ncbi.nlm.nih.gov/pubmed/19447654 "Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product"]. Mol Genet Metab. 2009 Aug; 97(4): 260–266. This function has also been attributed to cobalamin reductases.Watanabe F, Nakano Y. "Purification and characterization of aquacobalamin reductases from mammals". Methods Enzymol. 1997;281;295-305. The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.Quadros EV, Jackson B, Hoffbrand AV, Linnell JC. "Interconversion of cobalamins in human lymphocytes in vitro and the influence of nitrous oxide on the synthesis of cobalamin coenzymes". Vitamin B12, Proceedings of the Third European Symposium on Vitamin B12 and Intrinsic Factor. 1979;1045-1054.Quadros, EV. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2809139/ "Advances in the Understanding of Cobalamin Assimilation and Metabolism"]. Br J Haematol. 2010 Jan; 148(2): 195–204.

Mutations are associated with combined homocystinuria and methylmalonic acidemia.{{cite journal |vauthors=Ben-Omran TI, Wong H, Blaser S, Feigenbaum A | title = Late-onset cobalamin-C disorder: a challenging diagnosis | journal = Am. J. Med. Genet. A | volume = 143A | issue = 9 | pages = 979–84 |date=May 2007 | pmid = 17431913 | doi = 10.1002/ajmg.a.31671 | s2cid = 19791175 }}{{cite journal |vauthors=Morel CF, Lerner-Ellis JP, Rosenblatt DS | title = Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations | journal = Mol. Genet. Metab. | volume = 88 | issue = 4 | pages = 315–21 |date=August 2006 | pmid = 16714133 | doi = 10.1016/j.ymgme.2006.04.001 }}{{cite journal |vauthors=Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA | title = Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance | journal = Am. J. Med. Genet. A | volume = 143A | issue = 20 | pages = 2430–4 |date=October 2007 | pmid = 17853453 | doi = 10.1002/ajmg.a.31932 | s2cid = 19372503 }}{{Citation |last1=Sloan |first1=Jennifer L. |title=Disorders of Intracellular Cobalamin Metabolism |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=http://www.ncbi.nlm.nih.gov/books/NBK1328/ |access-date=2024-02-24 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=20301503 |last2=Carrillo |first2=Nuria |last3=Adams |first3=David |last4=Venditti |first4=Charles P. |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}

{{Reflist}}

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{{refend}}

• [https://www.ncbi.nlm.nih.gov/books/NBK1328/ GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism]

{{Metabolism of vitamins, coenzymes, and cofactors}}

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