Recombinant Human Methylmalonyl-CoA mutase, mitochondrial (MMUT)

中文名稱：

人MMUT重組蛋白
貨號：

CSB-YP015243HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人MMUT重組蛋白
貨號：

CSB-EP015243HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人MMUT重組蛋白
貨號：

CSB-BP015243HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人MMUT重組蛋白
貨號：

CSB-MP015243HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

MMUT
Uniprot No.：

P22033
別名：

MCM; Methylmalonyl CoA isomerase ; Methylmalonyl CoA mutase mitochondrial; Methylmalonyl Coenzyme A mutase; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase; mitochondrial; Mut; MUTA_HUMAN
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

33-750
氨基酸序列

LHQQQPLH PEWAALAKKQ LKGKNPEDLI WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEESN KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle.
基因功能參考文獻：
1. localization of hMMAA and its colocalization with hMCM in human PMID: 28943303
2. Study identified 41 novel mutations in patients with methylmalonic aciduria (MMA); most of them were missense mutations. The absence of MUT protein in most of the patient cell lines, suggesting protein instability as a major mechanism of deficiency in mut-type MMA. PMID: 27167370
3. A total of 54 different mutations in MUT were identified in 48 patients; 16 novel mutations were identified... In five patients, the NGS panel did not confirm the diagnosis made by complementation analysis. One of these patients was found to carry 2 novel mutations PMID: 27233228
4. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
5. In methylmalonic acidemia,a total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. PMID: 26454439
6. Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), are associated with methylmalonic academia in a Chinese family. PMID: 27060300
7. Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia. PMID: 25982642
8. 3 Patients with Isolated methylmalonic acidemia lacked methylmalonyl-CoA mutase (MCM) activity and had no MCM band, patients with the cobalamin defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents. PMID: 26370686
9. a novel splice site mutation in intron 12 of the MUT gene is a potential highly pathogenic allele via inhibition of alternative splicing leading to Methylmalonic aciduria. PMID: 26449400
10. data stratify MUT missense mutations into categories of biochemical defects, including (1) reduced protein level due to misfolding, (2) increased thermolability, (3) impaired enzyme activity, and (4) reduced cofactor response in substrate turnover PMID: 25125334
11. This is the first description of a homozygous mutation in the N-terminal extended segment of the MCM apoenzyme. PMID: 24330302
12. Mutations in MUT cause methylmalonic acidemia. PMID: 24406457
13. Using alanine-scanning mutagenesis, we demonstrate that the switch III motif is critical for bidirectional signal transmission of the GTPase-activating protein activity of MCM and the chaperone functions of MeaB in the MeaB-MCM complex. PMID: 23873214
14. The contribution of Glu338 in human MCM to adenosylcobalamin Co-C bond labilization and catalysis was evaluated by substituting the residue with a glutamine, aspartate, or alanine. The MCM variants showed 16-, 330-, and 12-fold reductions in k(cat). PMID: 23311430
15. This work reveals that Mexican patients with MMA have new (p.V136F) as well as worldwide and hispanic reported mutations. The mutation R108C is the most frequent change (40% of total alleles) mainly in patients from Leon, Guanajuato PMID: 23045948
16. Pathogenicity of the human truncation mutant results from its inability to sequester adenosyltransferase (AdoCbl) for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation and disease. PMID: 21604717
17. Methylmalonyl-CoA Mutase intronic variations causing aberrantly spliced messenger RNA is associated with propionic and methylmalonic acidemia. PMID: 17966092
18. MMAA acts as a chaperone of human MCM protein. PMID: 21138732
19. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. PMID: 20876572
20. CPS1, MUT, NOX4, and DPEP1 is associated with plasma homocysteine in healthy Women. PMID: 20031578
21. Seventeen MUT gene mutations were detected in 14 of the 21 methylmalonic acidemia patients, among them 8 mutations were novel. PMID: 19806564
22. Analysis of the prevalence and distribution of MCM mutations throughout the coding sequence in relation to the enzyme structure. PMID: 15643616
23. The MUT gene was sequenced in 160 patients with mut methylmalonic acidemia (MMA). Sequence analysis identified mutations in 96% of disease alleles. PMID: 16281286
24. p.Y100C, p.R108H, p.N366S, p.V633G, p.R694W, p.R694L and p.M700K mutations are associated with a mut(-) phenotype. PMID: 17113806
25. A case report is presented of kidney transplantation in MUT. PMID: 17401587
26. Mutations in methylmalonyl-CoA mutase is associated with methylmalonic acidemia PMID: 17410422
27. Novel mutation of the MCM gene (R727X)identified in a Japanese girl causing mild presentation of methylmalonic acidemia during infancy. PMID: 17445044
28. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
29. Crystal structure and mutagenesis of MUT: insight into the causes of metylamalonic aciduria. PMID: 17728257
30. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
31. early hyperammonemia can lead to significant brain damage in methylmalonic acidemia PMID: 18940555
32. Mitochondrial dysfunction in MUT is reported. PMID: 19088183
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相關疾病：

Methylmalonic aciduria type mut (MMAM)
亞細胞定位：

Mitochondrion matrix. Mitochondrion. Cytoplasm.
蛋白家族：

Methylmalonyl-CoA mutase family
數據庫鏈接：

HGNC: 7526

OMIM: 251000

KEGG: hsa:4594

STRING: 9606.ENSP00000274813

UniGene: Hs.485527