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

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 (49) and Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Proteins (6) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human MMADHC MMADHC 27249 Q9H3L0
Anti-Mouse MMADHC MMADHC 109129  
Anti-Rat MMADHC MMADHC 362134  
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More ELISA Kits for Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Interaction Partners

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

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

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

  7. MMADHC was confirmed as a binding partner for MMACHC (show MMACHC ELISA Kits) both in vitro (SPR (show SPR ELISA Kits)) 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 ELISA Kits) 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 ELISA Kits) and Mmadhc may interact in only a subset of cells.

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

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

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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