Official Full Name
N-acylsphingosine amidohydrolase (acid ceramidase) 1
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.
ASAH1; N-acylsphingosine amidohydrolase (acid ceramidase) 1; ASAH, N acylsphingosine amidohydrolase (acid ceramidase); acid ceramidase; AC; FLJ21558; PHP32; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein; PHP; ASAH; ACDase; FLJ22079