ASAH1 N-acylsphingosine amidohydrolase 1
Gene ID: 427, updated on 3-Apr-2024Gene type: protein coding
Also known as: AC; PHP; ASAH; PHP32; ACDase; SMAPME
- See all available tests in GTR for this gene
- Go to complete Gene record for ASAH1
- Go to Variation Viewer for ASAH1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study on obesity and obesity-related traits. GeneReviews: Not available | |
| Farber lipogranulomatosis | See labs |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | See labs |
Genomic context
- Location:
- 8p22
- Sequence:
- Chromosome: 8; NC_000008.11 (18055992..18084961, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ASAH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ASAH1 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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