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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 many more products for this protein.
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the MMACHC (show MMACHC Proteins)-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC (show MMACHC Proteins)-Cbl (show CBL Proteins) 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 (show CBLC Proteins), 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 (show MMACHC Proteins) 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 (show MMACHC Proteins).
MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
MMADHC was confirmed as a binding partner for MMACHC (show MMACHC Proteins) both in vitro (SPR (show SPR Proteins)) 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 (show NDUFB3 Proteins) metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder
During organogenesis Mmachc (show MMACHC Proteins) 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)