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

MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. De plus, nous expédions Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Anticorps (56) et Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Kits (6) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
MMADHC 27249 Q9H3L0
MMADHC 109129  
MMADHC 362134  
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Top Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Protéines sur anticorps-enligne.fr

Showing 6 out of 7 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,869.04
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,869.04
Détails
Escherichia coli (E. coli) Humain His tag 100 μg Connectez-vous pour afficher 13 to 16 Days
$400.00
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Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$814.00
Détails
Levure Rat His tag   1 mg Connectez-vous pour afficher 60 to 71 Days
$2,665.67
Détails

MMADHC Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human , , ,
, ,
Mouse (Murine)

Rat (Rattus)

Plus protéines pour Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) partenaires d'interaction

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

  1. the MMACHC (Montrer MMACHC Protéines)-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC (Montrer MMACHC Protéines)-Cbl (Montrer CBL Protéines) 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 (Montrer CBLC Protéines), 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 (Montrer MMACHC Protéines) 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 (Montrer MMACHC Protéines).

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

  7. MMADHC was confirmed as a binding partner for MMACHC (Montrer MMACHC Protéines) both in vitro (SPR (Montrer SPR Protéines)) 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 (Montrer NDUFB3 Protéines) 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 (Montrer MMACHC Protéines) and Mmadhc may interact in only a subset of cells.

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

Profil protéine

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 Protéine
  • AI314967 Protéine
  • C2orf25 Protéine
  • cblD Protéine
  • CL25022 Protéine
  • RGD1303272 Protéine

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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