Aliases for ASAH1 Gene
External Ids for ASAH1 Gene
Previous Symbols for ASAH1 Gene
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ASAH1 Gene
ASAH1 (N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1) is a Protein Coding gene. Diseases associated with ASAH1 include spinal muscular atrophy with progressive myoclonic epilepsy and farber lipogranulomatosis. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is NAAA.
UniProtKB/Swiss-Prot for ASAH1 Gene
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid
Ceramidases (EC 22.214.171.124) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P). Ceramide and its downstream products, sphingosine and S1P, are bioactive lipids that mediate various cellular processes including cell growth arrest, differentiation and apoptosis.