甲基丙二酸單醯輔酶A變位酶（英語：Methylmalonyl Coenzyme-A mutase，MCM，亦簡稱甲基丙二醯輔酶A變位酶）是一種在代謝途徑上將甲基丙二酸單醯輔酶A轉換為琥珀醯輔酶A的酶，同時需要維生素B12的幫助。
功能
甲基丙二醯輔酶A變位酶主要分布在粒線體中，催化甲基丙二醯輔酶A異構為琥珀醯輔酶A從而進入三羧酸循環。而甲基丙二醯輔酶A來源於丙醯輔酶A，後者是異亮氨酸、纈氨酸、蘇氨酸、甲硫氨酸、胸腺嘧啶、膽固醇以及奇數鏈脂肪酸分解代謝的共同中間體。
人類基因組中編碼該酶的基因縮寫為MUT。[1]
參考文獻
進一步閱讀
- Ledley FD, Rosenblatt DS. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.. Hum. Mutat.. 1997, 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. Structure-based perspectives on B12-dependent enzymes.. Annu. Rev. Biochem.. 1997, 66: 269–313. doi:10.1146/annurev.biochem.66.1.269. PMID 9242908.
- Lubrano R, Elli M, Rossi M, et al.. 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.. 2007, 22 (8): 1209–14. doi:10.1007/s00467-007-0460-z. PMID 17401587.
- Frenkel EP, Kitchens RL. Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.. Br. J. Haematol.. 1978, 31 (4): 501–13. doi:10.1111/j.1365-2141.1975.tb00885.x. PMID 24458.
- Crane AM, Jansen R, Andrews ER, Ledley FD. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC442864/ Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.]. J. Clin. Invest.. 1992, 89 (2): 385–91. doi:10.1172/JCI115597. PMID 1346616. PMC 442864.
- Crane AM, Martin LS, Valle D, Ledley FD. Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.. Hum. Genet.. 1992, 89 (3): 259–64. doi:10.1007/BF00220536. PMID 1351030.
- Raff ML, Crane AM, Jansen R, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC295026/ Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.]. J. Clin. Invest.. 1991, 87 (1): 203–7. doi:10.1172/JCI114972. PMID 1670635. PMC 295026.
- Jansen R, Ledley FD. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1683687/ Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.]. Am. J. Hum. Genet.. 1990, 47 (5): 808–14. PMID 1977311. PMC 1683687.
- Nham SU, Wilkemeyer MF, Ledley FD. Structure of the human methylmalonyl-CoA mutase (MUT) locus.. Genomics. 1991, 8 (4): 710–6. doi:10.1016/0888-7543(90)90259-W. PMID 1980486.
- Ledley FD, Lumetta M, Nguyen PN, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC280243/ Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.]. Proc. Natl. Acad. Sci. U.S.A.. 1988, 85 (10): 3518–21. doi:10.1073/pnas.85.10.3518. PMID 2453061. PMC 280243.
- Jansen R, Kalousek F, Fenton WA, et al.. Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.. Genomics. 1989, 4 (2): 198–205. doi:10.1016/0888-7543(89)90300-5. PMID 2567699.
- Fenton WA, Hack AM, Kraus JP, Rosenberg LE. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC304442/ 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.. 1987, 84 (5): 1421–4. doi:10.1073/pnas.84.5.1421. PMID 2881300. PMC 304442.
- Zoghbi HY, O'Brien WE, Ledley FD. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.. Genomics. 1989, 3 (4): 396–8. doi:10.1016/0888-7543(88)90135-8. PMID 2907507.
- Kolhouse JF, Utley C, Allen RH. Isolation and characterization of methylmalonyl-CoA mutase from human placenta.. J. Biol. Chem.. 1980, 255 (7): 2708–12. PMID 6102092.
- Fenton WA, Hack AM, Willard HF, et al.. Purification and properties of methylmalonyl coenzyme A mutase from human liver.. Arch. Biochem. Biophys.. 1982, 214 (2): 815–23. doi:10.1016/0003-9861(82)90088-1. PMID 6124211.
- Qureshi AA, Crane AM, Matiaszuk NV, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC294249/ Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.]. J. Clin. Invest.. 1994, 93 (4): 1812–9. doi:10.1172/JCI117166. PMID 7909321. PMC 294249.
- Crane AM, Ledley FD. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1918235/ Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.]. Am. J. Hum. Genet.. 1994, 55 (1): 42–50. PMID 7912889. PMC 1918235.
- Janata J, Kogekar N, Fenton WA. Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.. Hum. Mol. Genet.. 1998, 6 (9): 1457–64. doi:10.1093/hmg/6.9.1457. PMID 9285782.
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