MMACHC
| MMACHC | ||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||
| Wikidata | ||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.[5]
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.[5] The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation
of alkylcobalamins including methylcobalamin and adenosylcobalamin.[6] This function has also been attributed to cobalamin reductases.[7] The MMACHC gene product and cobalamin reductases enable the interconversion of cyano- and alkylcobalamins.[8][9]
Clinical significance
Mutations are associated with combined homocystinuria and methylmalonic acidemia.[5][10][11][12][13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000132763 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028690 – 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.
- ^ S2CID 7688576.
- ^ Luciana Hannibal, Jihoe Kim, Nicola E. Brasch, Sihe Wang, David S. Rosenblatt, Ruma Banerjee, and Donald W. Jacobsen (August 2009). "Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product". Mol Genet Metab. 2009 Aug; 97(4): 260–266.
- ^ Watanabe F, Nakano Y. "Purification and characterization of aquacobalamin reductases from mammals". Methods Enzymol. 1997;281;295-305.
- ^ 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. "Advances in the Understanding of Cobalamin Assimilation and Metabolism". Br J Haematol. 2010 Jan; 148(2): 195–204.
- S2CID 19791175.
- PMID 16714133.
- S2CID 19372503.
- PMID 20301503, retrieved 2024-02-24
Further reading
- Froese DS, Zhang J, Healy S, Gravel RA (2009). "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria". Mol. Genet. Metab. 98 (4): 338–43. PMID 19700356.
- Tang H, Hao H, Tang SH, et al. (2009). "[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 26 (1): 62–5. PMID 19199254.
- Profitlich LE, Kirmse B, Wasserstein MP, et al. (2009). "High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria". Mol. Genet. Metab. 98 (4): 344–8. PMID 19767224.
- Nogueira C, Aiello C, Cerone R, et al. (2008). "Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type". Mol. Genet. Metab. 93 (4): 475–80. PMID 18164228.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. S2CID 4431933.
- Lerner-Ellis JP, Anastasio N, Liu J, et al. (2009). "Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations". Hum. Mutat. 30 (7): 1072–81. S2CID 2767341.
- Hannibal L, Kim J, Brasch NE, et al. (2009). "Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product". Mol. Genet. Metab. 97 (4): 260–6. PMID 19447654.
- Thauvin-Robinet C, Roze E, Couvreur G, et al. (2008). "The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum". J. Neurol. Neurosurg. Psychiatry. 79 (6): 725–8. S2CID 23493993.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Kim J, Hannibal L, Gherasim C, et al. (2009). "A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins". J. Biol. Chem. 284 (48): 33418–24. PMID 19801555.
- Richard E, Jorge-Finnigan A, Garcia-Villoria J, et al. (2009). "Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)". Hum. Mutat. 30 (11): 1558–66. S2CID 42657972.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Loewy AD, Niles KM, Anastasio N, et al. (2009). "Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence". Mol. Genet. Metab. 96 (4): 261–7. PMID 19200761.
- Kim J, Gherasim C, Banerjee R (2008). "Decyanation of vitamin B12 by a trafficking chaperone". Proc. Natl. Acad. Sci. U.S.A. 105 (38): 14551–4. PMID 18779575.
External links
 | This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |