Aliases for ASAH1 Gene
External Ids for ASAH1 Gene
Previous HGNC Symbols for ASAH1 Gene
Previous GeneCards Identifiers for ASAH1 Gene
This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
GeneCards Summary for ASAH1 Gene
ASAH1 (N-Acylsphingosine Amidohydrolase 1) is a Protein Coding gene. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. 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 NAAA.
UniProtKB/Swiss-Prot for ASAH1 Gene
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.
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).