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 | |||||||||||||
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| 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 | ||||||||||||
| RNA表达模式 | |||||||||||||
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| 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] | |||||||||||
| 甲基丙二酸单酰辅酶A变位酶 | |||||||
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| 识别码 | |||||||
| EC編號 | 5.4.99.2 | ||||||
| CAS号 | 9023-90-9 | ||||||
| 数据库 | |||||||
| IntEnz | IntEnz浏览 | ||||||
| BRENDA | BRENDA入口 | ||||||
| ExPASy | NiceZyme浏览 | ||||||
| KEGG | KEGG入口 | ||||||
| MetaCyc | 代谢路径 | ||||||
| PRIAM | 概述 | ||||||
| PDB | RCSB PDB PDBj PDBe PDBsum | ||||||
| 基因本体 | AmiGO / EGO | ||||||
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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
[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<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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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）
- 醫學主題詞表（MeSH）：Methylmalonyl-CoA+Mutase
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