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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 (63) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
MMACHC 25974 Q9Y4U1
Rat MMACHC MMACHC 313520  
MMACHC 67096 Q9CZD0
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Top MMACHC Proteins at antibodies-online.com

Showing 6 out of 6 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag 100 μg Log in to see 7 to 8 Days
$319.00
Details
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 49 Days
$5,442.50
Details
Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 49 Days
$5,442.50
Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
Details
HOST_HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Log in to see 10 to 12 Days
$785.40
Details
HOST_Escherichia coli (E. coli) Human Un-conjugated   100 μg Log in to see 3 to 4 Days
$382.86
Details

MMACHC Proteins by Origin and Source

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

Top referenced MMACHC Proteins

  1. Human MMACHC Protein expressed in Escherichia coli (E. coli) - ABIN1098298 : Lerner-Ellis, Tirone, Pawelek, Doré, Atkinson, Watkins, Morel, Fujiwara, Moras, Hosack, Dunbar, Antonicka, Forgetta, Dobson, Leclerc, Gravel, Shoubridge, Coulton, Lepage, Rommens, Morgan, Rosenblatt: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. in Nature genetics 2005 (PubMed)
    Show all 2 references for ABIN1098298

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 (show CBLC Proteins) proteins.

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

  1. Sequencing of the MMACHC gene is used for confirming the diagnosis of cblC (show CBLC Proteins) 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).

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

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

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

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

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

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

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

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

  10. 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.

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 Proteins) 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
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