CERS1

Description

The CERS1 gene encodes for ceramide synthase 1, an enzyme that plays a crucial role in the biosynthesis of ceramide, a vital lipid molecule involved in various cellular processes. Ceramide serves as a building block for complex sphingolipids and acts as a signaling molecule, regulating cell growth, differentiation, and apoptosis. CERS1 is highly expressed in the brain and other tissues, highlighting its importance in maintaining cellular functions.

Associated Diseases

• Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)
• Charcot-Marie-Tooth Disease Type 4C (CMT4C)
• Spinocerebellar Ataxia Type 38 (SCA38)
• Cerebral Palsy

Did you know?

Mutations in the CERS1 gene can lead to a rare genetic disorder called hereditary sensory and autonomic neuropathy type 1 (HSAN1), characterized by severe pain, loss of sensation, and autonomic dysfunction.