ASAH1
Chr 8ARN-acylsphingosine amidohydrolase 1
Also known as: AC, ACDase, ASAH, PHP, PHP32, SMAPME
The protein functions as a lysosomal ceramidase that hydrolyzes ceramides into sphingosine and fatty acids, regulating bioactive sphingolipid levels that control cellular processes including proliferation, apoptosis, and differentiation. Mutations cause two autosomal recessive disorders: Farber lipogranulomatosis (a lysosomal storage disorder) and spinal muscular atrophy with progressive myoclonic epilepsy (affecting neuromuscular and neurological systems). The gene is highly constrained against loss-of-function variants (LOEUF 1.18), reflecting its essential cellular role.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASAH1 · 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 →External Resources
Links to major genomics databases and tools