Aliases for ASAH2 Gene
External Ids for ASAH2 Gene
Previous GeneCards Identifiers for ASAH2 Gene
Ceramidases (EC 126.96.36.199), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ASAH2 Gene
ASAH2 (N-Acylsphingosine Amidohydrolase 2) is a Protein Coding gene. Diseases associated with ASAH2 include Lipogranulomatosis and Niemann-Pick Disease, Type C1. Among its related pathways are S-1P Stimulated Signaling and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is ASAH2B.
UniProtKB/Swiss-Prot for ASAH2 Gene
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid at an optimal pH of 6.5-8.5. Acts as a key regulator of sphingolipid signaling metabolites by generating sphingosine at the cell surface. Acts as a repressor of apoptosis both by reducing C16-ceramide, thereby preventing ceramide-induced apoptosis, and generating sphingosine, a precursor of the antiapoptotic factor sphingosine 1-phosphate. Probably involved in the digestion of dietary sphingolipids in intestine by acting as a key enzyme for the catabolism of dietary sphingolipids and regulating the levels of bioactive sphingolipid metabolites in the intestinal tract.
Ceramidases (EC 188.8.131.52) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).