Aliases for SMPD1 Gene
External Ids for SMPD1 Gene
Previous GeneCards Identifiers for SMPD1 Gene
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
GeneCards Summary for SMPD1 Gene
SMPD1 (Sphingomyelin Phosphodiesterase 1) is a Protein Coding gene. Diseases associated with SMPD1 include Niemann-Pick Disease, Type B and Niemann-Pick Disease, Type A. Among its related pathways are Dimerization of procaspase-8 and Metabolism. GO annotations related to this gene include hydrolase activity and sphingomyelin phosphodiesterase activity. An important paralog of this gene is SMPDL3A.
UniProtKB/Swiss-Prot for SMPD1 Gene
Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.
Isoform 2 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.
Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity.