The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.1 - 0.3 µg/ml. Detects a band of approximately 55 kDa (predicted molecular weight: 58 kDa).
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
Involvement in disease
Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]. This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.