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SMAPME
Chr 8ARN-acylsphingosine amidohydrolase 1
Also known as: AC, ACDase, ASAH, PHP, PHP32, SMAPME
This gene encodes lysosomal acid ceramidase, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. Mutations cause spinal muscular atrophy with progressive myoclonic epilepsy, a neuromuscular disorder affecting both the motor system and causing seizures. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SMAPME?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMAPME · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools