Hamster Methylmalonic Aciduria and Homocystinuria Type C Protein (MMACHC) ELISA Kit | MMACHC elisa kit
Hamster Methylmalonic Aciduria and Homocystinuria Type C Protein (MMACHC) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
Uniprot Description
MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1p34.1
Cellular Component: cytoplasm; cytosol
Molecular Function: cyanocobalamin reductase (cyanide-eliminating) activity; demethylase activity; glutathione binding; oxidoreductase activity; protein binding; protein homodimerization activity
Biological Process: cobalamin biosynthetic process; cobalamin metabolic process; glutathione metabolic process
Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type
Research Articles on MMACHC
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Product Notes
The Hamster MMACHC mmachc (Catalog #AAA9390842) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9390842 ELISA Kit recognizes Hamster MMACHC. It is sometimes possible for the material contained within the vial of "Methylmalonic Aciduria and Homocystinuria Type C Protein (MMACHC), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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