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 significanceedit
Mutations are associated with combined homocystinuria and methylmalonic acidemia.[5][10][11][12][13]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000132763 - Ensembl, May 2017
^ abcGRCm38: 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.
^ abcLerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS (January 2006). "Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type". Nat. Genet. 38 (1): 93–100. doi:10.1038/ng1683. PMID 16311595. 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.
^Ben-Omran TI, Wong H, Blaser S, Feigenbaum A (May 2007). "Late-onset cobalamin-C disorder: a challenging diagnosis". Am. J. Med. Genet. A. 143A (9): 979–84. doi:10.1002/ajmg.a.31671. PMID 17431913. S2CID 19791175.
^Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (October 2007). "Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance". Am. J. Med. Genet. A. 143A (20): 2430–4. doi:10.1002/ajmg.a.31932. PMID 17853453. S2CID 19372503.
^Sloan, Jennifer L.; Carrillo, Nuria; Adams, David; Venditti, Charles P. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Disorders of Intracellular Cobalamin Metabolism", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301503, retrieved 2024-02-24
Further readingedit
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. doi:10.1016/j.ymgme.2009.07.014. 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. doi:10.3760/cma.j.issn.1003-9406.2009.01.014. 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. doi:10.1016/j.ymgme.2009.07.017. 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. doi:10.1016/j.ymgme.2007.11.005. 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. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414. 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. doi:10.1002/humu.21001. PMID 19370762. 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. doi:10.1016/j.ymgme.2009.04.005. PMC2709701. 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. doi:10.1136/jnnp.2007.133025. PMID 18245139. 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. doi:10.1101/gr.2596504. PMC528928. 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. doi:10.1074/jbc.M109.057877. PMC2785186. 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. doi:10.1002/humu.21107. PMID 19760748. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. doi:10.1016/j.ymgme.2008.12.011. 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. Bibcode:2008PNAS..10514551K. doi:10.1073/pnas.0805989105. PMC2567227. PMID 18779575.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
mmachc, methylmalonic, aciduria, homocystinuria, type, protein, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes3sby, 3sbz, 3sc0, 3somidentifiersaliases, cblc, methylmalonic, aciduria, cobalamin, deficiency,. Methylmalonic aciduria and homocystinuria type C protein MMACHC is a protein that in humans is encoded by the MMACHC gene 5 MMACHCAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3SBY 3SBZ 3SC0 3SOMIdentifiersAliasesMMACHC cblC methylmalonic aciduria cobalamin deficiency cblC type with homocystinuria metabolism of cobalamin associated CExternal IDsOMIM 609831 MGI 1914346 HomoloGene 12082 GeneCards MMACHCGene location Human Chr Chromosome 1 human 1 Band1p34 1Start45 500 300 bp 1 End45 513 382 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 D1Start116 559 476 bp 2 End116 565 603 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverstromal cell of endometriumleft ventricleprefrontal cortexright adrenal glandgastrocnemius musclerectumleft adrenal glandganglionic eminenceislet of LangerhansTop expressed inmyocardium of ventriclesternocleidomastoid musclesoleus muscledigastric muscletemporal muscletibialis anterior muscletriceps brachii musclevastus lateralis muscleextraocular musclegastrocnemius muscleMore reference expression dataBioGPSn aGene ontologyMolecular functioncobalamin binding protein binding FAD binding demethylase activity protein homodimerization activity glutathione binding cyanocobalamin reductase cyanide eliminating activity oxidoreductase activityCellular componentcytosol cytoplasmBiological processdemethylation glutathione metabolic process cobalamin biosynthetic process cobalamin metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2597467096EnsemblENSG00000132763ENSMUSG00000028690UniProtQ9Y4U1Q9CZD0RefSeq mRNA NM 015506NM 001330540NM 025962RefSeq protein NP 001317469NP 056321NP 080238Location UCSC Chr 1 45 5 45 51 MbChr 4 116 56 116 57 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 Further reading 5 External linksFunction editThe 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 editMutations are associated with combined homocystinuria and methylmalonic acidemia 5 10 11 12 13 References edit 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 a b c Lerner Ellis JP Tirone JC Pawelek PD Dore C Atkinson JL Watkins D Morel CF Fujiwara TM Moras E Hosack AR Dunbar GV Antonicka H Forgetta V Dobson CM Leclerc D Gravel RA Shoubridge EA Coulton JW Lepage P Rommens JM Morgan K Rosenblatt DS January 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria cblC type Nat Genet 38 1 93 100 doi 10 1038 ng1683 PMID 16311595 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 Ben Omran TI Wong H Blaser S Feigenbaum A May 2007 Late onset cobalamin C disorder a challenging diagnosis Am J Med Genet A 143A 9 979 84 doi 10 1002 ajmg a 31671 PMID 17431913 S2CID 19791175 Morel CF Lerner Ellis JP Rosenblatt DS August 2006 Combined methylmalonic aciduria and homocystinuria cblC phenotype genotype correlations and ethnic specific observations Mol Genet Metab 88 4 315 21 doi 10 1016 j ymgme 2006 04 001 PMID 16714133 Tsai AC Morel CF Scharer G Yang M Lerner Ellis JP Rosenblatt DS Thomas JA October 2007 Late onset combined homocystinuria and methylmalonic aciduria cblC and neuropsychiatric disturbance Am J Med Genet A 143A 20 2430 4 doi 10 1002 ajmg a 31932 PMID 17853453 S2CID 19372503 Sloan Jennifer L Carrillo Nuria Adams David Venditti Charles P 1993 Adam Margaret P Feldman Jerry Mirzaa Ghayda M Pagon Roberta A eds Disorders of Intracellular Cobalamin Metabolism GeneReviews Seattle WA University of Washington Seattle PMID 20301503 retrieved 2024 02 24Further reading editFroese 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 doi 10 1016 j ymgme 2009 07 014 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 doi 10 3760 cma j issn 1003 9406 2009 01 014 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 doi 10 1016 j ymgme 2009 07 017 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 doi 10 1016 j ymgme 2007 11 005 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 Bibcode 2006Natur 441 315G doi 10 1038 nature04727 PMID 16710414 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 doi 10 1002 humu 21001 PMID 19370762 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 doi 10 1016 j ymgme 2009 04 005 PMC 2709701 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 doi 10 1136 jnnp 2007 133025 PMID 18245139 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 doi 10 1101 gr 2596504 PMC 528928 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 doi 10 1074 jbc M109 057877 PMC 2785186 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 doi 10 1002 humu 21107 PMID 19760748 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 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 doi 10 1016 j ymgme 2008 12 011 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 Bibcode 2008PNAS 10514551K doi 10 1073 pnas 0805989105 PMC 2567227 PMID 18779575 External links editGeneReviews NCBI NIH UW entry on Disorders of Intracellular Cobalamin Metabolism nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MMACHC amp oldid 1209998873, wikipedia, wiki, book, books, library,
