ASAH1, Official Symbol ASAH1provided by HGNC Official Full Name N-acylsphingosine amidohydrolase 1provided by HGNC Primary source HGNC:HGNC:735 See related Ensembl:ENSG00000104763 MIM:613468; AllianceGenome:HGNC:735 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AC; PHP; ASAH; PHP32; ACDase; SMAPME Summary 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] Expression Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues See more Orthologs mouse all