1/100 - 1/1000. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol. Alternatively use Tris-EDTA buffer (pH8.0).
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.