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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 (55) und Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria Kits (6) und viele weitere Produktgruppen zu diesem Protein an.
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the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site
analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway
specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC.
MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).
mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder
During organogenesis Mmachc and Mmadhc may interact in only a subset of cells.
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.
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)