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Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Proteins (MMADHC)

MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Additionally we are shipping Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Antibodies (52) and Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Kits (4) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
MMADHC 27249 Q9H3L0
MMADHC 109129  
MMADHC 362134  
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Top Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Proteins at antibodies-online.com

Showing 6 out of 6 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
$5,960.83
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
$5,960.83
Details
Wheat germ Human GST tag 10 μg Log in to see 11 to 12 Days
$414.29
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Log in to see 10 to 12 Days
$860.20
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Yeast Rat His tag   1 mg Log in to see 60 to 71 Days
$2,665.67
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Escherichia coli (E. coli) Human Un-conjugated   100 μg Log in to see 2 to 3 Days
$388.93
Details

MMADHC Proteins by Origin and Source

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

Rat (Rattus)

More Proteins for Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) Interaction Partners

Human Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) interaction partners

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

  2. analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC (show CBLC Proteins), and for supporting the cytoplasmic cobalamin trafficking pathway

  3. specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis

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

  5. The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC (show MMACHC Proteins).

  6. MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.

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

  8. mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 (show NDUFB3 Proteins) metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder

Mouse (Murine) Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) interaction partners

  1. During organogenesis Mmachc (show MMACHC Proteins) and Mmadhc may interact in only a subset of cells.

Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) Protein Profile

Protein Summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.

Gene names and symbols associated with MMADHC

  • methylmalonic aciduria and homocystinuria, cblD type (MMADHC)
  • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc)
  • methylmalonic aciduria and homocystinuria, cblD type (Mmadhc)
  • 2010311D03Rik protein
  • AI314967 protein
  • C2orf25 protein
  • cblD protein
  • CL25022 protein
  • RGD1303272 protein

Protein level used designations for MMADHC

methylmalonic aciduria and homocystinuria type D homolog, mitochondrial , methylmalonic aciduria and homocystinuria type D protein, mitochondrial , protein C2orf25, mitochondrial , likely ortholog of H. sapiens chromosome 2 open reading frame 25 (C2orf25)

GENE ID SPECIES
424311 Gallus gallus
27249 Homo sapiens
109129 Mus musculus
362134 Rattus norvegicus
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