^Entrez Gene: MUT methylmalonyl Coenzyme A mutase. （原始内容于2010-04-12）.
延伸阅读编辑
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.
外部链接编辑
GeneReviews/NIH/NCBI/UW entry on Methylmalonic Acidemia （页面存档备份，存于互联网档案馆）
甲基丙二酸单酰辅酶a变位酶, 英語, methylmalonyl, coenzyme, mutase, 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, rendering, based, 2xij, 有效结构pdb, 直系同源检索, pdbe, rcsbpdb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, gen. 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 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 RCSBPDB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 GeneEC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 processSources Amigo QuickGORNA表达模式更多表达数据直系同源体物种人类小鼠Entrez459417850EnsemblENSG00000146085ENSMUSG00000023921UniProtP22033P16332mRNA序列NM 000255NM 008650蛋白序列NP 000246NP 032676基因位置Chr 6 49 4 49 43 MbChr 17 40 93 40 96 MbPubMed查询 1 2 查论编甲基丙二酸单酰辅酶A变位酶命名系统命名缩写识别码EC編號 5 4 99 2CAS号 9023 90 9数据库IntEnz IntEnz浏览BRENDA 英语 BRENDA BRENDA入口ExPASy 英语 ExPASy NiceZyme浏览KEGG KEGG入口MetaCyc 英语 MetaCyc 代谢路径PRIAM 英语 PRIAM enzyme specific profiles 概述PDB RCSB PDB PDBj PDBe PDBsum基因本体 AmiGO EGO搜索PMC 相关文献PubMed 相关文献 目录 1 功能 2 人类基因组 3 参考文献 4 延伸阅读 5 外部链接功能 编辑甲基丙二酰辅酶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 编辑人类基因组中编码该酶的基因缩写为MUT 1 参考文献 编辑 Entrez Gene MUT methylmalonyl Coenzyme A mutase 原始内容存档于2010 04 12 延伸阅读 编辑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 lt 1 AID HUMU1 gt 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 nbsp 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 nbsp 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 nbsp 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 nbsp 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 nbsp 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 nbsp 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 nbsp 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 编辑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 取自 https zh wikipedia org w index php title 甲基丙二酸单酰辅酶A变位酶 amp oldid 67752880, 维基百科，wiki，书籍，书籍，图书馆，
