Mmut - methylmalonyl-CoA mutase-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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688517 Mmut

基因描述

Type	Description
Definition	methylmalonyl-CoA mutase

研究结论

Date	Results	Publications
2010-02-15 11:16:00	Methylmalonyl-CoA mutase and PCCA show a much higher expression level in the entire CNS than in the liver, suggesting a different, but important function of this pathway during brain development.	19699272

名称对应

Type	IDs
Synonymous	Mut
Gene
Nucleutide sequences
Protein sequencees	RefSeq: XP_001067239.4, XP_003754543.3
Others

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mRNA

Protein

UniprotKB

Description

Refseq

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Location

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Pubmed编号	文献信息	发表日期	相关基因
28101778	Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. World J Pediatr Lian-Shu Han , Zhuo Huang , Feng Han , Yu Wang , Zhu-Wen Gong , Xue-Fan Gu	2017-08-01	-
28497574	Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. Hum. Mutat. Tanja Plessl , CÃ©line BÃ¼rer , Seraina Lutz , Wyatt W Yue , Matthias R Baumgartner , D Sean Froese	2017-08-01	-
27167370	Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Hum. Mutat. Patrick Forny , Anne-Sophie Schnellmann , Celine Buerer , Seraina Lutz , Brian Fowler , D Sean Froese , Matthias R Baumgartner	2016-08-01	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
20876572	Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem D Sean Froese , Grazyna Kochan , JoÃ£o R C Muniz , Xuchu Wu , Carina Gileadi , Emelie Ugochukwu , Ewelina Krysztofinska , Roy A Gravel , Udo Oppermann , Wyatt W Yue	2010-12-03	-
19861951	Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. Mol. Ther. Randy J Chandler , Charles P Venditti	2010-01-01	-
19699272	Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain. Neuroscience D Ballhausen , L Mittaz , O Boulat , L BonafÃ© , O Braissant	2009-12-01	Pcca, Mut
20031578	Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet Guillaume ParÃ© , Daniel I Chasman , Alexander N Parker , Robert R Y Zee , Anders MÃ¤larstig , Udo Seedorf , Rory Collins , Hugh Watkins , Anders Hamsten , Joseph P Miletich , Paul M Ridker	2009-04-01	-
18614015	A mitochondrial protein compendium elucidates complex I disease biology. Cell David J Pagliarini , Sarah E Calvo , Betty Chang , Sunil A Sheth , Scott B Vafai , Shao-En Ong , Geoffrey A Walford , Canny Sugiana , Avihu Boneh , William K Chen , David E Hill , Marc Vidal , James G Evans , David R Thorburn , Steven A Carr , Vamsi K Mootha	2008-07-11	Acacb, Hscb, Gadd45gip1, Lars2, Acad11, Chchd10, Nt5dc3, Slc25a41, Nt5m, Cyp27a1, Acly, Ndufb11, Gldc, Rexo2, Rars, Aldh6a1, Slc25a47, Rdh14, Ppif, Ldhal6b, Me2, Glyat, Slc25a45, Acaca, Nt5c3, Mrpl10, Mrpl41, Mrpl30, Aldh1l1, Mthfs, Shmt2, Atic, Mthfd1, Mat2b, Fam210a, Gpt2, Lyrm2, Rdh13, Mtrf1l, Atad3a, Rars2, Sccpdh, Me3, Maob, Dut, Cyp11b1, Fdps, Akr7a5, Msra, Krt5, Cox6b1, Qdpr, Acat1, Acat2, Aldh7a1, Pcca, Etfb, Etfa, Nudt19, Acadl, Acadm, Acadvl, Acaa1a, Acads, Aco1, Aco2, Prosc, Afg3l1, Adsl, Agxt, Ak2, Ak4, Akap1, Alas1, Alas2, Abcd1, Aldh2, Aldh3a2, Gfer, Acsm1, Slc25a4, Slc25a5, Prdx3, Prdx6, Mrps2, Arg2, Rhoa, Atp5a1, Atp5b, Atp5c1, Atp5f1, Atp5g1, Atp5j, Atp5k, Atpif1, Auh, Akr1b7, Bad, Bak1
17937813	Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet Randy J Chandler , Jennifer Sloan , Hong Fu , Matthew Tsai , Sally Stabler , Robert Allen , Klaus H Kaestner , Haig H Kazazian , Charles P Venditti	2007-10-15	-

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