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

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. Additionally we are shipping MMACHC Proteins (6) and many more products for this protein.

list all antibodies Gene Name GeneID UniProt
MMACHC 25974 Q9Y4U1
MMACHC 313520  
MMACHC 67096 Q9CZD0
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Top anti-MMACHC Antibodies at antibodies-online.com

Showing 10 out of 56 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Supplier Delivery Price Details
Human Rabbit Un-conjugated WB MMACHC Antibody (C-term) (ABIN1881544) western blot analysis in K562 cell line lysates (35 µg/lane). This demonstrates the MMACHC antibody detected the MMACHC protein (arrow). 400 μL Log in to see 10 to 11 Days
$324.50
Details
Human Mouse Un-conjugated FACS, WB HEK293T cells transfected with either RC223846 overexpress plasmid (Red) or empty vector control plasmid (Blue) were immunostained by anti-MMACHC antibody (ABIN2455897), and then analyzed by flow cytometry. HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY MMACHC (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 µg per lane) were separated by SDS-PAGE and immunoblotted with anti-MMACHC. 100 μL Log in to see 2 to 3 Days
$423.50
Details
Human Rabbit Un-conjugated WB 100 μL Log in to see 2 to 3 Days
$289.00
Details
Human Rabbit Un-conjugated 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 Log in to see 2 to 3 Days
$358.60
Details
Human Rabbit Un-conjugated ICC, IHC (p), WB   100 μL Log in to see 8 to 10 Days
$507.83
Details
Human Rabbit Un-conjugated WB 50 μg Log in to see 8 to 10 Days
$551.83
Details
Human Rabbit Un-conjugated ICC, IF, IHC (fp), WB 100 μL Log in to see 6 to 11 Days
$485.71
Details
Human Mouse Un-conjugated FACS   100 μL Log in to see 8 to 10 Days
$493.17
Details
Human Rabbit Un-conjugated ELISA   200 μL Log in to see 8 to 10 Days
$713.17
Details
Human Rabbit HRP ELISA, WB   200 μL Log in to see 8 to 10 Days
$969.83
Details

MMACHC Antibodies by Reactivity, Application, Clonality and Conjugate

Attributes Applications Host Clonality Conjugate
Human , ,
,
,
, , , , ,
Rat (Rattus)


Mouse (Murine)


Top referenced anti-MMACHC Antibodies

  1. Human Polyclonal MMACHC Primary Antibody for WB - ABIN1881544 : Froese, Healy, McDonald, Kochan, Oppermann, Niesen, Gravel: Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. in Molecular genetics and metabolism 2010 (PubMed)
    Show all 5 references for ABIN1881544

More Antibodies against MMACHC Interaction Partners

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

  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 (show CBLC Antibodies) proteins.

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

  1. Five different known mutations in either MUT (show MUT Antibodies) or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.

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

  3. the MMACHC-MMADHC (show MMADHC Antibodies) complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl (show CBL Antibodies) binding site

  4. These results indicated that hypergonadotropic hypogonadism (show LHCGR Antibodies) may be a novel clinical manifestation of cblC (show CBLC Antibodies) disease, but more reports on additional patients are needed to support this hypothesis.

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

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

  7. Results propose a model whereby membrane-bound LMBD1 (show LMBRD1 Antibodies) and ABCD4 (show ABCD4 Antibodies) facilitate the vectorial delivery of lysosomal vitamin B12 (show NDUFB3 Antibodies) to cytoplasmic MMACHC.

  8. 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.

  9. HCFC1 (show HCFC1 Antibodies) plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression

  10. The gene responsible for cblC (show CBLC Antibodies), named MMACHC, catalyzes the reductive decyanation of cyanocobalamin.

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

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

  2. During organogenesis Mmachc and Mmadhc (show MMADHC Antibodies) may interact in only a subset of cells.

MMACHC Antigen Profile

Protein Summary

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.

Gene names and symbols associated with MMACHC

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

Protein level used designations for 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 SPECIES
513433 Bos taurus
424597 Gallus gallus
25974 Homo sapiens
313520 Rattus norvegicus
67096 Mus musculus
Selected quality suppliers for anti-MMACHC (MMACHC) Antibodies
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