メチルマロニルCoAムターゼ

MUTの反応メカニズムは、アデノシルコバラミンのC-Co(III)結合の均一開裂で始まり、CとCoの原子とも電子を受け取り、電子対結合の開裂を形成する。Coイオンは、Co(III)とCo（II）の間の酸化状態を変動している。この2つの状況は分光測色法で判別が可能であり、Co(III)は赤色で反磁性（不対電子なし）でCo（II）は黄色で常磁性（不対電子あり）である。それゆえ、触媒反応でのビタミンB12の役割は、可逆の自由ラジカルを生成することである。C-Co（III）結合が元々弱く（解離エネルギー＝109 kJ/mol）、酵素の立体的相互作用により結合力がさらに弱くなっているためC-Co（III）結合はこのメカニズムに大変適している。均一開裂反応は生化学では普通ではなく、ほとんどの生化学的な結合の開裂反応は異種開裂（開裂反応を形成する電子対は分離した原子のひとつにより十分に獲得できる。）を経て起こる。

 ---> 
メチルマロン酸　　　　　　　　　コハク酸

（MUT's reaction mechanism）

1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000146085 - Ensembl, May 2017
2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023921 - Ensembl, May 2017
3. ↑ Human PubMed Reference:
4. ↑ Mouse PubMed Reference:
5. ↑ “Entrez Gene: MUT methylmalonyl Coenzyme A mutase”. 2010年10月31日閲覧。

• Ledley FD, Rosenblatt DS (1997). “Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.”. Hum. Mutat. 9 (1): 1–6. doi:10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E. PMID 8990001. 
• Ludwig ML, Matthews RG (1997). “Structure-based perspectives on B12-dependent enzymes.”. Annu. Rev. Biochem. 66: 269–313. doi:10.1146/annurev.biochem.66.1.269. PMID 9242908. 
• Lubrano R, Elli M, Rossi M, et al. (2007). “Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature.”. Pediatr. Nephrol. 22 (8): 1209–14. doi:10.1007/s00467-007-0460-z. PMID 17401587. 
• Frenkel EP, Kitchens RL (1978). “Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.”. Br. J. Haematol. 31 (4): 501–13. doi:10.1111/j.1365-2141.1975.tb00885.x. PMID 24458. 
• Crane AM, Jansen R, Andrews ER, Ledley FD (1992). “Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.”. J. Clin. Invest. 89 (2): 385–91. doi:10.1172/JCI115597. PMC 442864. PMID 1346616. https://pmc.ncbi.nlm.nih.gov/articles/PMC442864/. 
• Crane AM, Martin LS, Valle D, Ledley FD (1992). “Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.”. Hum. Genet. 89 (3): 259–64. doi:10.1007/BF00220536. PMID 1351030. 
• Raff ML, Crane AM, Jansen R, et al. (1991). “Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.”. J. Clin. Invest. 87 (1): 203–7. doi:10.1172/JCI114972. PMC 295026. PMID 1670635. https://pmc.ncbi.nlm.nih.gov/articles/PMC295026/. 
• Jansen R, Ledley FD (1990). “Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.”. Am. J. Hum. Genet. 47 (5): 808–14. PMC 1683687. PMID 1977311. https://pmc.ncbi.nlm.nih.gov/articles/PMC1683687/. 
• Nham SU, Wilkemeyer MF, Ledley FD (1991). “Structure of the human methylmalonyl-CoA mutase (MUT) locus.”. Genomics 8 (4): 710–6. doi:10.1016/0888-7543(90)90259-W. PMID 1980486. 
• Ledley FD, Lumetta M, Nguyen PN, et al. (1988). “Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.”. Proc. Natl. Acad. Sci. U.S.A. 85 (10): 3518–21. doi:10.1073/pnas.85.10.3518. PMC 280243. PMID 2453061. https://pmc.ncbi.nlm.nih.gov/articles/PMC280243/. 
• Jansen R, Kalousek F, Fenton WA, et al. (1989). “Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.”. Genomics 4 (2): 198–205. doi:10.1016/0888-7543(89)90300-5. PMID 2567699. 
• Fenton WA, Hack AM, Kraus JP, Rosenberg LE (1987). “Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.”. Proc. Natl. Acad. Sci. U.S.A. 84 (5): 1421–4. doi:10.1073/pnas.84.5.1421. PMC 304442. PMID 2881300. https://pmc.ncbi.nlm.nih.gov/articles/PMC304442/. 
• Zoghbi HY, O'Brien WE, Ledley FD (1989). “Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.”. Genomics 3 (4): 396–8. doi:10.1016/0888-7543(88)90135-8. PMID 2907507. 
• Kolhouse JF, Utley C, Allen RH (1980). “Isolation and characterization of methylmalonyl-CoA mutase from human placenta.”. J. Biol. Chem. 255 (7): 2708–12. PMID 6102092. 
• Fenton WA, Hack AM, Willard HF, et al. (1982). “Purification and properties of methylmalonyl coenzyme A mutase from human liver.”. Arch. Biochem. Biophys. 214 (2): 815–23. doi:10.1016/0003-9861(82)90088-1. PMID 6124211. 
• Qureshi AA, Crane AM, Matiaszuk NV, et al. (1994). “Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.”. J. Clin. Invest. 93 (4): 1812–9. doi:10.1172/JCI117166. PMC 294249. PMID 7909321. https://pmc.ncbi.nlm.nih.gov/articles/PMC294249/. 
• Crane AM, Ledley FD (1994). “Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.”. Am. J. Hum. Genet. 55 (1): 42–50. PMC 1918235. PMID 7912889. https://pmc.ncbi.nlm.nih.gov/articles/PMC1918235/. 
• Janata J, Kogekar N, Fenton WA (1998). “Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.”. Hum. Mol. Genet. 6 (9): 1457–64. doi:10.1093/hmg/6.9.1457. PMID 9285782. 

この項目は、医学に関連した書きかけの項目です。この項目を加筆・訂正などしてくださる協力者を求めています（プロジェクト:医学／Portal:医学と医療）。

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