Gene:
N-acylsphingosine amidohydrolase (acid ceramidase) 1
Gene ID:
190861
Symbol:
ASAH1
Species:
1000
Description:
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. Two transcript variants encoding distinct isoforms have been identified for this gene.