SMPD1

Description

The SMPD1 gene encodes for acid sphingomyelinase (ASM), an enzyme crucial for sphingolipid metabolism. ASM catalyzes the hydrolysis of sphingomyelin into ceramide and phosphocholine, playing a vital role in various cellular processes like signal transduction, apoptosis, and membrane trafficking. Variations in the SMPD1 gene can lead to altered ASM activity, impacting these cellular functions and contributing to disease development.

Associated Diseases

• Niemann-Pick disease type A and B
• Gaucher disease
• Alzheimer‘s disease
• Parkinson‘s disease
• Multiple sclerosis
• Cancer

Did you know?

Mutations in the SMPD1 gene are responsible for Niemann-Pick disease, a rare inherited disorder characterized by the accumulation of sphingomyelin in various organs.