Aliases for SMPD4 Gene
External Ids for SMPD4 Gene
Previous GeneCards Identifiers for SMPD4 Gene
The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]
GeneCards Summary for SMPD4 Gene
SMPD4 (Sphingomyelin Phosphodiesterase 4) is a Protein Coding gene. Diseases associated with SMPD4 include Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies and Microcephaly With Simplified Gyral Pattern. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include sphingomyelin phosphodiesterase activity and sphingomyelin phosphodiesterase D activity.
UniProtKB/Swiss-Prot Summary for SMPD4 Gene
Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:16517606, PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function (PubMed:31495489). May sensitize cells to DNA damage-induced apoptosis (PubMed:18505924). In skeletal muscle, mediates TNF-stimulated oxidant production (By similarity).