The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab99247 is purified using conventional chromatography techniques.
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Preparation and Storage
Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
pH: 8.00 Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol
epididymis secretory protein Li 5
N acyl L amino acid amidohydrolase
Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).
Expression is highest in kidney, strong in brain and weaker in placenta and spleen.
Involvement in disease
Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:609924]. ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.