|Application ||WB, IHC, FC, ICC, E|
|Description||This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein 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. Alternate splicing results in multiple transcript variants.|
|Immunogen||Purified recombinant fragment of human ALDH6A1 (AA: 1-195) expressed in E. Coli.|
|Formulation||Purified antibody in PBS with 0.05% sodium azide|
|Other Names||Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial, MMSDH, Malonate-semialdehyde dehydrogenase [acylating], 220.127.116.11, 18.104.22.168, Aldehyde dehydrogenase family 6 member A1, ALDH6A1, MMSDH|
WB~~1/500 - 1/2000
IF~~1/200 - 1/1000
FC~~1/200 - 1/400
IHC~~1/200 - 1/1000
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||ALDH6A1 Antibody is for research use only and 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.
1.Orphanet J Rare Dis. 2013 Jul 9;8:98.2.J Inherit Metab Dis. 2012 May;35(3):437-42.
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