Background: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.
仕様
Synonyms:1110038I05Rik,AI314632,Aldehyde dehydrogenase 6 family member A1,Aldehyde dehydrogenase family 6 member A1,Aldehyde dehydrogenase family 6,subfamily A1,ALDH6A1,Malonate semialdehyde dehydrogenase,Malonate-semialdehyde dehydrogenase [acylating],Methylmalonate semialdehyde dehydrogenase [acylating] mitochondrial,Methylmalonate-semialdehyde dehydrogenase [acylating],MGC37325,MGC40271,Mitochondrial acylating methylmalonate semialdehyde dehydrogenase,mitochondrial,MMSA,MMSADHA,MMSDH
Host:Rabbit
Reactivity:Human,Mouse,Rat
Applications:WB
Concentration:1mg/ml
Immunogen:Recombinant protein of human ALDH6A1
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000
Gene_ID(human):4329
Swissprot:Q02252
Isotype:IgG
Research Areas:Cancer, Metabolism, Signal transduction