Acid ceramidase

Acid Ceramidase (also known as ASAH1) is an enzyme that in humans is encoded by the ASAH1 gene. It is a member of the N-acylsphingosine amidohydrolase (ASAH) family. This enzyme is responsible for the breakdown of ceramide into sphingosine and free fatty acid within the lysosome.

Funció ACdase

Function

Acid ceramidase is a lysosomal enzyme that catalyzes the degradation of ceramide to sphingosine and a free fatty acid. This reaction is part of the sphingolipid metabolism pathway, which is essential for the regulation of cell growth and survival. The enzyme is activated in acidic environments, hence its name.

Clinical significance

Mutations in the ASAH1 gene are associated with Farber disease, a rare and severe disorder characterized by an accumulation of ceramide in various tissues, leading to symptoms such as joint deformities, subcutaneous nodules, and progressive neurological deterioration.

In addition, acid ceramidase has been implicated in the pathogenesis of several types of cancer, including prostate cancer, breast cancer, and leukemia. It is thought that the enzyme's role in regulating cell growth and survival may contribute to the uncontrolled cell proliferation seen in these diseases.

Research

Research into acid ceramidase has focused on its potential as a therapeutic target for the treatment of cancer and Farber disease. Inhibitors of the enzyme have been shown to induce cell death in cancer cells, suggesting that they may have potential as anticancer drugs.

See also

• Sphingolipid
• Farber disease
• ASAH1
• Ceramide