ASAH1

The ASAH1 gene encodes acid ceramidase (AC), a lysosomal enzyme also known as N-acylsphingosine deacylase. AC catalyzes ceramide hydrolysis into sphingosine and free fatty acids, a core step in sphingolipid metabolism. It regulates ceramide levels, which control key cellular processes: apoptosis, proliferation, and inflammatory signaling.
AC participates in sphingolipid pathways linked to cell survival and stress responses. ASAH1 mutations cause Farber lipogranulomatosis, a rare lysosomal disorder. Overexpression drives cancers like melanoma and breast cancer via tumor growth/metastasis. Therapeutic efforts include AC inhibitors (e.g., carmofur derivatives) in preclinical/clinical stages for these conditions, targeting aberrant AC activity.