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ASAH1 / Acid Ceramidase

N-acylsphingosine amidohydrolase (acid ceramidase) 1

ASAH1 / Acid Ceramidase is 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.

Gene Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1
Synonyms: ASAH1, ACDase, Acid CDase, Acid ceramidase, ASAH, Acylsphingosine deacylase, PHP32, SMAPME, PHP, Putative 32 kDa heart protein
Target Sequences: NM_004315 NP_004306.3 Q13510

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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).