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ASAH1
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated betasubunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis anddegradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with alysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinctisoforms have been identified for this gene. (provided by RefSeq, Jul 2008)This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated betasubunit that is cleaved to the mature enzyme posttranslationally
The encoded protein catalyzes the synthesis anddegradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with alysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinctisoforms have been identified for this gene. (provided by RefSeq, Jul 2008)
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