Methylmalonate-semialdehyde dehydrogenase (acylating), mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene. 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.
Formulation
0.5mg/ml if reconstituted with 0.2ml sterile DI water
Host
Rabbit
Immunogen Region
Amino acids DTNFYGKQGIQFYTQLK from the human protein were used as the immunogen for the ALDH6A1 antibody.
Isotype
IgG
Predicted Reactivity
Human, Mouse, Rat
Reactivity
Human, Mouse, Rat
Recombinant
No
Subcellular Location
Cytoplasmic
Uniprot
Q02252
Format
Antigen affinity purified
Purification
Affinity purified
Storage
After reconstitution, the ALDH6A1 antibody can be stored for up to one month at 4°C. For long-term, aliquot and store at -20°C. Avoid repeated freezing and thawing.
Applications
WB, IHC-P
Dilution
Western blot: 1-2ug/ml,Immunohistochemistry (FFPE): 2-5ug/ml