SMPD4
Description
SMPD4, also known as acidic sphingomyelinase, is a gene responsible for encoding a lysosomal enzyme that plays a crucial role in the metabolism of sphingomyelin, a major phospholipid found in cell membranes. This enzyme catalyzes the hydrolysis of sphingomyelin into ceramide and phosphocholine. SMPD4 is involved in various cellular processes, including signal transduction, apoptosis, and membrane trafficking. Mutations in this gene can lead to a variety of inherited disorders.
Associated Diseases
- Niemann-Pick disease type A and B
- Farber disease
- Sphingomyelin lipidosis
- Neurodegenerative disorders
Did you know?
SMPD4 is also involved in the immune response and has been implicated in inflammatory conditions.
