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

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 Antibodies (73) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
MMACHC 25974 Q9Y4U1
Rat MMACHC MMACHC 313520  
MMACHC 67096 Q9CZD0
How to order from antibodies-online
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Order online
  • orders@antibodies-online.com

Top MMACHC Proteins at antibodies-online.com

Showing 6 out of 7 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 50 Days
$6,749.58
Details
Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 50 Days
$6,749.58
Details
HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Log in to see Available
$814.00
Details
Escherichia coli (E. coli) Human His tag 100 μg Log in to see 15 to 19 Days
$400.00
Details
Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$414.29
Details
Yeast Cow His tag   1 mg Log in to see 60 to 71 Days
$2,735.33
Details

MMACHC Proteins by Origin and Source

Origin Expressed in Conjugate
Human , , ,
, ,
Mouse (Murine)

More Proteins for Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, with Homocystinuria (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 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) interaction partners

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

  2. 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.

  3. 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.

  4. 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).

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

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

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

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

  9. 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.

  10. 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.

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

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

  13. 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.

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

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

  16. 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

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

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

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

  20. MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).

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 may interact in only a subset of cells.

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

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 MMACHC Proteins (MMACHC)
Did you look for something else?