This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ASAH1-20-RE | 20 (40 μL) | 200 μL |  |
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| ASAH1-20-OR | 20 (40 μL) | 200 μL |  |
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| ASAH1-20-GO | 20 (40 μL) | 200 μL |  |
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| ASAH1-20-GR | 20 (40 μL) | 200 μL |  |
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| ASAH1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
Gene Symbol : ASAH1
Gene Name : N-acylsphingosine amidohydrolase 1
Chromosome : CHR 8: 180,849,97-180,562,98
Locus : 8p22
Alt. Genes : HIPK3
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