|Other Names||Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial, MMSDH, Malonate-semialdehyde dehydrogenase [acylating], Aldehyde dehydrogenase family 6 member A1, ALDH6A1, MMSDH|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP1469b was selected from the C-term region of human ALDH6A1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.|
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Provided below are standard protocols that you may find useful for product applications.
ALDH6A1 belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. This protein is a mitochondrial methylmalonate semialdehyde dehydrogenase, and catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
Kuiper,H., Cytogenet. Genome Res. 109 (4), 533 (2005)Anderson,N.L., Mol. Cell Proteomics 3 (4), 311-326 (2004)Chambliss,K.L., J. Inherit. Metab. Dis. 23 (5), 497-504 (2000)Kedishvili,N.Y., J. Biol. Chem. 267 (27), 19724-19729 (1992)
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