The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 - 2 µg/ml. Detects a band of approximately 52 kDa.
Use a concentration of 20 µg/ml.
Use a concentration of 2.5 µg/ml.
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
Broadly expressed with highest expression in heart.
Involvement in disease
Defects in ASAH1 are the cause of Farber lipogranulomatosis (FL) [MIM:228000]; also known as Farber disease (FD). This sphingolipid disease is characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age.