MMUT Antibody

Code CSB-MA015243A0m
Size US$350
Image
  • Western Blot
    Positive WB detected in: MMUT antibody at 1:1000
    Lane 1: Mouse liver tissue
    Lane 2: Rat kidney tissue
    Lane 3: Rat heart tissue
    Secondary
    Goat polyclonal to Mouse IgG at 1/20000 dilution
    Predicted band size: 83 KDa
    Observed band size: 83 KDa
    Exposure time: 5min
  • Western Blot
    Positive WB detected in: MMUT antibody at 1:1000
    Lane 1: U87 whole cell lysate
    Lane 2: U251 whole cell lysate
    Lane 3: Jurkat whole cell lysate
    Lane 4: K562 whole cell lysate
    Lane 5: 293 whole cell lysate
    Secondary
    Goat polyclonal to Mouse IgG at 1/20000 dilution
    Predicted band size: 83 KDa
    Observed band size: 83 KDa
    Exposure time: 5min
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Product Details

Uniprot No. P22033
Target Names MMUT
Alternative Names Mmut antibody; Mut antibody; Methylmalonyl-CoA mutase antibody; mitochondrial antibody; MCM antibody; EC 5.4.99.2 antibody; Methylmalonyl-CoA isomerase antibody Mmut antibody; Mut antibody; Methylmalonyl-CoA mutase antibody; mitochondrial antibody; MCM antibody; EC 5.4.99.2 antibody; Methylmalonyl-CoA isomerase antibody "
Raised in Mouse
Species Reactivity Human, Mouse,Rat
Immunogen Recombinant Mouse Methylmalonyl-CoA mutase, mitochondrial protein (31-748AA)
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Isotype IgG1
Clone No. 3G12D12
Purification Method >95%, Protein G purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form Liquid
Tested Applications ELISA,WB
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
(From Uniprot)
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.
Gene References into Functions
  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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Involvement in disease Methylmalonic aciduria type mut (MMAM)
Subcellular Location Mitochondrion matrix. Mitochondrion. Cytoplasm.
Protein Families Methylmalonyl-CoA mutase family
Database Links

HGNC: 7526

OMIM: 251000

KEGG: hsa:4594

STRING: 9606.ENSP00000274813

UniGene: Hs.485527

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