ASAH1 Back

N-acylsphingosine amidohydrolase (acid ceramidase) 1

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NCBI Description of ASAH1
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ASAH1 is highly significantly mutated in
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ASAH1 is significantly mutated in
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ASAH1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ASAH1