甲基丙二酸单酰辅酶A变位酶

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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
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编号 5.4.99.2
RNA表达模式
PBB GE MUT 202959 at tn.png
PBB GE MUT 202960 s at tn.png
更多表达数据
直系同源体
物种 人类 鼠类
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
识别码
EC编号 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 PDBe PDBsum
基因本体 AmiGO / EGO

甲基丙二酸单酰辅酶A变位酶英语: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。

目录

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

进一步阅读


  • 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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