anti-Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC) Antikörper

The exact function of the protein encoded by MMACHC is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Zusätzlich bieten wir Ihnen MMACHC Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.

Alle Antikörper anzeigen Gen GeneID UniProt
MMACHC 25974 Q9Y4U1
MMACHC 313520  
MMACHC 67096 Q9CZD0
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Top anti-MMACHC Antikörper auf antikoerper-online.de

Showing 10 out of 66 products:

Katalog Nr. Reaktivität Wirt Konjugat Applikation Bilder Menge Lieferzeit Preis Details
Rind (Kuh) Kaninchen Unkonjugiert WB 100 μL 2 bis 3 Tage
$289.00
Details
Human Kaninchen Unkonjugiert ICC, IF, IHC (p), WB WB Image Sample (50 ug of whole cell lysate) A: Mouse brain 12% SDS PAGE antibody diluted at 1:1000 ICC/IF Image Immunofluorescence analysis of paraformaldehyde-fixed HeLa, using MMACHC, antibody at 1:100 dilution. 100 μL 3 bis 4 Tage
$466.18
Details
Human Maus Unkonjugiert FACS, WB 100 μL 11 bis 14 Tage
$522.50
Details
Fledermaus Kaninchen Unkonjugiert WB 100 μL 11 bis 14 Tage
$551.83
Details
Human Kaninchen Unkonjugiert WB Western blot analysis in K562 cell line lysates (35ug/lane). 400 μL 2 bis 3 Tage
$515.63
Details
Human Kaninchen Unkonjugiert WB Western blot analysis of extracts of various cell lines, using MMACHC antibody. 200 μL 12 bis 14 Tage
$438.90
Details
Human Maus Unkonjugiert FACS, IF, IHC, IHC (p), WB   100 μL 11 bis 14 Tage
$522.50
Details
Human Kaninchen Unkonjugiert ICC, IHC, IHC (p), WB   100 μL 11 bis 14 Tage
$537.17
Details
Human Kaninchen Unkonjugiert WB Western Blot analysis of MMACHC expression in transfected 293T cell line by MMACHC MaxPab polyclonal antibody.Lane 1: MMACHC transfected lysate(25.30 KDa).Lane 2: Non-transfected lysate. MMACHC MaxPab rabbit polyclonal antibody. Western Blot analysis of MMACHC expression in human liver. 100 μg 11 bis 12 Tage
$425.71
Details
Human Maus Unkonjugiert WB Western Blot analysis of MMACHC expression in transfected 293T cell line by MMACHC MaxPab polyclonal antibody.Lane 1: MMACHC transfected lysate(24.75 KDa).Lane 2: Non-transfected lysate. 50 μg 11 bis 12 Tage
$440.00
Details

Am meisten referenzierte anti-MMACHC Antikörper

  1. Mammalian Monoclonal MMACHC Primary Antibody für ISt, IHC - ABIN1304827 : Deme, Miousse, Plesa, Kim, Hancock, Mah, Rosenblatt, Coulton: Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. in Molecular genetics and metabolism 2012 (PubMed)
    Show all 3 Pubmed References

Weitere Antikörper gegen MMACHC Interaktionspartner

Cow (Bovine) Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC) Interaktionspartner

  1. bCblCpro,a bovine homolog of a human B trafficking chaperone appears to be very sensitive to thermal denaturation, indicating that thermolability is a common property of CblC proteins.

  2. These results suggest that GSSG is a negative regulator of bCblCpro and that the molar ratio of [GSH]/[GSSG] in cells may determine the stability of the B(12) trafficking chaperone.

  3. The results of this study suggest that GSH positively modulates bCblC by increasing the binding affinity for CNCbl, which would enhance functional efficiency of the protein.

Human Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC) Interaktionspartner

  1. These data show that the processing of cobalamin in cytoplasm occurs in a multiprotein complex composed of at least methionine synthase, methionine synthase reductase, MMACHC and MMADHC.

  2. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC.

  3. Partial CblC-type inherited Methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A) can onset with severe metabolic Atypical hemolytic uremic syndrome.

  4. The crystal structure of ceCblC provides insights into how architectural differences at the alpha- and beta-faces of cobalamin promote the thiol oxidase activity of ceCblC but mute it in wild-type human CblC.

  5. Sequencing of the MMACHC gene is used for confirming the diagnosis of cblC disease. MMACHC mutations were found in all the nine patients. 7 different mutations were identified, including c.609G>A, c.455_457delCCC, c.394C>T, c.445_446insA, c.658_660delAAG, c.452A>G and IVS1+1G>A. The most frequent mutation was c.609G>A (6/9). Two patients had homozygous mutations (c.445_446insA/c.445_446insA and c.609G>A/c.609G>A).

  6. Case Report: c.567dupT,p.(Ile190Tyrfs*13) MMACHC heterozygous mutation underlying methylmalonic academia in infant.

  7. Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.

  8. MMACHC mutation was found in children diagnosed with hemolytic uremic syndrome secondary to cobalamin C disorder.

  9. the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site

  10. These results indicated that hypergonadotropic hypogonadism may be a novel clinical manifestation of cblC disease, but more reports on additional patients are needed to support this hypothesis.

  11. an adult patient with bull's eye macular lesions and no clinically relevant systemic symptoms was diagnosed with cblC by genetic screening and follow-up biochemical laboratory tests.

  12. A novel mutation p.G155R of the MMACHC gene is identified in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.

  13. Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.

  14. mutation analysis of the MMACHC gene in four patients revealed novel heterozygous mutations at nucleotide 276 (c.276G > A [p.Glu926Glu] and c.276G > T [p.Glu92Asp]), which is located at the end of exon 2.

  15. HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression

  16. The gene responsible for cblC, named MMACHC, catalyzes the reductive decyanation of cyanocobalamin.

  17. data suggest that the interaction of methionine synthase with MMACHC may play a role in the regulation of the cellular processing of cobalamins that is required for cobalamin cofactor synthesis

  18. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

  19. The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC.

  20. a structural framework provides a framework for understanding catalytic function and disease mechanism for the multifunctional MMACHC complex.

Mouse (Murine) Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (MMACHC) Interaktionspartner

  1. The Mmachc gene is required for pre-implantation embryogenesis in the mouse.

  2. During organogenesis Mmachc and Mmadhc may interact in only a subset of cells.

MMACHC Antigen-Profil

Protein Überblick

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.

Genbezeichner und Symbole assoziert mit MMACHC

  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC) Antikörper
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (Mmachc) Antikörper
  • methylmalonic aciduria cblC type, with homocystinuria (Mmachc) Antikörper
  • 1810037K07Rik Antikörper
  • cblC Antikörper
  • RGD1310806 Antikörper
  • RP11-291L19.3 Antikörper

Bezeichner auf Proteinebene für MMACHC

methylmalonic aciduria and homocystinuria type C homolog , methylmalonic aciduria and homocystinuria type C protein homolog , methylmalonic aciduria and homocystinuria type C protein

GENE ID SPEZIES
513433 Bos taurus
424597 Gallus gallus
25974 Homo sapiens
313520 Rattus norvegicus
67096 Mus musculus
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