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

MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Zusätzlich bieten wir Ihnen Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Antikörper (53) und Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Kits (4) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
MMADHC 27249 Q9H3L0
MMADHC 109129  
MMADHC 362134  
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Top Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Proteine auf antikoerper-online.de

Showing 6 out of 7 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$5,960.83
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$5,960.83
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
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HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 10 bis 12 Tage
$860.20
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Hefe Ratte His tag   1 mg Anmelden zum Anzeigen 60 bis 71 Tage
$2,665.67
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Escherichia coli (E. coli) Human His tag   100 μg Anmelden zum Anzeigen 13 bis 16 Tage
$400.00
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MMADHC Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , , ,
, ,
Mouse (Murine)

Rat (Rattus)

Weitere Proteine zu Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) Interaktionspartnern

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

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

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

  7. MMADHC was confirmed as a binding partner for MMACHC (zeige MMACHC Proteine) both in vitro (SPR (zeige SPR Proteine)) 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 (zeige NDUFB3 Proteine) 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) Interaktionspartner

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

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

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit 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

Bezeichner auf Proteinebene für 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 SPEZIES
424311 Gallus gallus
27249 Homo sapiens
109129 Mus musculus
362134 Rattus norvegicus
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