Aliases for NSMAF Gene
External Ids for NSMAF Gene
Previous GeneCards Identifiers for NSMAF Gene
This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
GeneCards Summary for NSMAF Gene
NSMAF (Neutral Sphingomyelinase Activation Associated Factor) is a Protein Coding gene. Diseases associated with NSMAF include 8P11 Myeloproliferative Syndrome. Among its related pathways are TNFR1 Pathway and Ceramide Pathway. Gene Ontology (GO) annotations related to this gene include phospholipid binding and sphingomyelin phosphodiesterase activator activity. An important paralog of this gene is LRBA.
UniProtKB/Swiss-Prot for NSMAF Gene
Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.