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

MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. 再加上,我们可以发Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria 抗体 (52)Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria 蛋白 (6)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
MMADHC 27249 Q9H3L0
MMADHC 109129  
MMADHC 362134  
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适于 Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria 相互作用对的更多 ELISA 试剂盒

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

  1. the MMACHC (显示 MMACHC ELISA试剂盒)-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC (显示 MMACHC ELISA试剂盒)-Cbl (显示 CBL ELISA试剂盒) 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 (显示 CBLC ELISA试剂盒), 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 (显示 MMACHC ELISA试剂盒) 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 (显示 MMACHC ELISA试剂盒).

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

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

Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC) 抗原简介

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

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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