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Methylmalonic aciduria and homocystinuria

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Involved in cobalamin metabolism. Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin. Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin. Promotes oxidation of cob(II)alamin bound to MMACHC.

Below are the list of possible Methylmalonic aciduria and homocystinuria products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Methylmalonic aciduria and homocystinuria type D homolog

 Methylmalonic aciduria and homocystinuria type D homolog ELISA Kit
 Methylmalonic aciduria and homocystinuria type D homolog Recombinant
 Methylmalonic aciduria and homocystinuria type D homolog Antibody
Also known as Methylmalonic aciduria and homocystinuria type D homolog, mitochondrial (CblD).
MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features incl
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ude developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).

Cellular Component: cytoplasm; mitochondrion

Biological Process: cobalamin metabolic process; coenzyme biosynthetic process
 Mmadhc ELISA Kit
 Mmadhc Recombinant
 Mmadhc Antibody
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