甲基丙二酸单酰辅酶A变位酶 甲基丙二酸单酰辅酶A变位酶 Rendering based on PDB 2XIJ​. 有效结构 PDB 直系同源检索：PDBe, RCSB PDB查询代码列表 2XIJ​, 2XIQ​, 3BIC​ 标识 代号 MUT; MCM 扩展标识 遗传学：609058 鼠基因：97239 同源基因：20097 GeneCards: MUT Gene EC編號 5.4.99.2 基因本体论描述 分子功能 · methylmalonyl-CoA mutase activity · cobalamin binding · metal ion binding · modified amino acid binding 细胞成分 · mitochondrion · mitochondrial matrix 生物过程 · fatty acid beta-oxidation · post-embryonic development · short-chain fatty acid catabolic process · cellular lipid metabolic process · small molecule metabolic process · homocysteine metabolic process Sources: Amigo / QuickGO RNA表达模式 更多表达数据 直系同源体 物种 人类 小鼠 Entrez 4594 17850 Ensembl ENSG00000146085 ENSMUSG00000023921 UniProt P22033 P16332 mRNA序列 NM_000255 NM_008650 蛋白序列 NP_000246 NP_032676 基因位置 Chr 6: 49.4 – 49.43 Mb Chr 17: 40.93 – 40.96 Mb PubMed查询 [1] [2] 查 论 编 甲基丙二酸单酰辅酶A变位酶 标识符 酶学委员会编号（EC编号） 5.4.99.2 CAS号 9023-90-9 数据库 集成关系酶学数据库（IntEnz） IntEnz总观 不伦瑞克酶学数据库（BRENDA）（英语：BRENDA） BRENDA进入 专家蛋白质分析系统（ExPASy）（英语：ExPASy） NiceZyme总观 京都基因与基因组百科全书（KEGG） KEGG进入 元代谢途径数据库（MetaCyc）（英语：MetaCyc） 代谢途径 PRIAM酶功能特异性谱（英语：PRIAM enzyme-specific profiles） 谱档案 蛋白质数据库（PDB）结构 结构生物信息学研究合作实验室PDB PDB欧洲 PDB概述 基因本体（GO） AmiGO / 快速GO 搜索 公共医学中心（PMC） 文章 公共医学数据库（PubMed） 文章 国家生物技术信息中心（NCBI） 蛋白质 甲基丙二酸单酰辅酶A变位酶（英語：Methylmalonyl Coenzyme-A mutase，MCM，亦简称甲基丙二酰辅酶A变位酶）是一种在代谢途径上将甲基丙二酸单酰辅酶A转换为琥珀酰辅酶A的酶，同时需要维生素B12的帮助。 功能 甲基丙二酰辅酶A变位酶主要分布在线粒体中，催化甲基丙二酰辅酶A异构为琥珀酰辅酶A从而进入三羧酸循环。而甲基丙二酰辅酶A来源于丙酰辅酶A，后者是异亮氨酸、缬氨酸、苏氨酸、甲硫氨酸、胸腺嘧啶、胆固醇以及奇数链脂肪酸分解代谢的共同中间体。 人类基因组 人类基因组中编码该酶的基因缩写为MUT。[1] 参考文献 ^ Entrez Gene: MUT methylmalonyl Coenzyme A mutase. （原始内容存档于2010-04-12）.  延伸阅读 Ledley FD, Rosenblatt DS. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.. Hum. Mutat. 1997, 9 (1): 1–6. PMID 8990001. doi:10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E.  Ludwig ML, Matthews RG. Structure-based perspectives on B12-dependent enzymes.. Annu. Rev. Biochem. 1997, 66: 269–313. PMID 9242908. doi:10.1146/annurev.biochem.66.1.269.  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. PMID 17401587. doi:10.1007/s00467-007-0460-z.  引文格式1维护：显式使用等标签 (link) 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. PMID 24458. doi:10.1111/j.1365-2141.1975.tb00885.x.  Crane AM, Jansen R, Andrews ER, Ledley FD. 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. PMC 442864 . PMID 1346616. doi:10.1172/JCI115597.  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. PMID 1351030. doi:10.1007/BF00220536.  Raff ML, Crane AM, Jansen R; et al. 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. PMC 295026 . PMID 1670635. doi:10.1172/JCI114972.  引文格式1维护：显式使用等标签 (link) Jansen R, Ledley FD. 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. PMC 1683687 . PMID 1977311.  Nham SU, Wilkemeyer MF, Ledley FD. Structure of the human methylmalonyl-CoA mutase (MUT) locus.. Genomics. 1991, 8 (4): 710–6. PMID 1980486. doi:10.1016/0888-7543(90)90259-W.  Ledley FD, Lumetta M, Nguyen PN; et al. 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. PMC 280243 . PMID 2453061. doi:10.1073/pnas.85.10.3518.  引文格式1维护：显式使用等标签 (link) 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. PMID 2567699. doi:10.1016/0888-7543(89)90300-5.  引文格式1维护：显式使用等标签 (link) Fenton WA, Hack AM, Kraus JP, Rosenberg LE. 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. PMC 304442 . PMID 2881300. doi:10.1073/pnas.84.5.1421.  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. PMID 2907507. doi:10.1016/0888-7543(88)90135-8.  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. PMID 6124211. doi:10.1016/0003-9861(82)90088-1.  引文格式1维护：显式使用等标签 (link) Qureshi AA, Crane AM, Matiaszuk NV; et al. Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.. J. Clin. Invest. 1994, 93 (4): 1812–9. PMC 294249 . PMID 7909321. doi:10.1172/JCI117166.  引文格式1维护：显式使用等标签 (link) Crane AM, Ledley FD. Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.. Am. J. Hum. Genet. 1994, 55 (1): 42–50. PMC 1918235 . PMID 7912889.  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. PMID 9285782. doi:10.1093/hmg/6.9.1457.  外部链接 GeneReviews/NIH/NCBI/UW entry on Methylmalonic Acidemia （页面存档备份，存于互联网档案馆） 醫學主題詞表（MeSH）：Methylmalonyl-CoA+Mutase

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