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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ASAH1
N-acylsphingosine amidohydrolase 1
Chromosome 8 Β· 8p22
NCBI Gene: 427Ensembl: ENSG00000104763.20HGNC: HGNC:735UniProt: A0A1B0GUE3
121PubMed Papers
22Diseases
0Drugs
127Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
early endosomeendoplasmic reticulumprotein bindinghydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesFarber lipogranulomatosisspinal muscular atrophy-progressive myoclonic epilepsy syndromeHereditary myoclonus - progressive distal muscular atrophyASAH1-related sphingolipidosis
✦AI Summary

ASAH1 (N-acylsphingosine amidohydrolase 1) encodes acid ceramidase, a lysosomal enzyme that catalyzes the breakdown of ceramide to sphingosine in sphingolipid metabolism 1. This enzymatic function is critical for maintaining hepatic lipid homeostasis; hepatocyte-specific ASAH1 deletion exacerbates high-fat diet-induced steatosis, hepatitis, and fibrosis through accumulation of ceramide and cholesterol, impaired autophagy, and endoplasmic reticulum stress 2. ASAH1 also regulates immune responses; its inhibition in colorectal cancer induces immunological cell death and enhances anti-tumor immunity through type I/II interferon activation and cytotoxic T cell infiltration, making it a therapeutic target when combined with checkpoint inhibitors 1. In asthma, reduced ASAH1 expression correlates with enhanced CD8+ T cell and NK cell infiltration 3. Pathologically, ASAH1 mutations cause Farber lipogranulomatosis and related sphingolipidoses, while variants contribute to Parkinson's disease susceptibility through impaired lysosomal function 4. Podocyte-specific ASAH1 deletion disrupts TRPML1-mediated lysosomal calcium signaling, increasing exosome release and inducing nephrotic syndrome 5. ASAH1 genetic variants also interact with neurotrophin signaling in schizophrenia pathogenesis 6.

Sources cited
1
ASAH1 (acid ceramidase) converts ceramide to sphingosine; overexpressed in colorectal cancer; its inhibition induces immunological cell death and enhances anti-PD-1 responses
PMID: 38142035
2
Hepatocyte-specific ASAH1 ablation aggravates fatty liver disease, increases ceramide/cholesterol levels, impairs autophagy, and promotes fibrotic progression
PMID: 39719015
3
ASAH1 variants constitute a significant burden in lysosomal storage disorder genes associated with Parkinson's disease susceptibility
PMID: 29140481
4
ASAH1 is a hub lipid metabolism-related gene in asthma with reduced expression; correlates negatively with CD8+ T cells and activated NK cells
PMID: 38297226
5
Podocyte-specific ASAH1 deletion impairs TRPML1 channel activity and lysosomal calcium release, enhancing exosome secretion and causing nephrotic syndrome
PMID: 33221496
6
ASAH1 genetic variants interact with NGF in neurotrophin signaling pathway to influence schizophrenia susceptibility and psychopathology
PMID: 32569620
Disease Associationsβ“˜22
Farber lipogranulomatosisOpen Targets
0.84Strong
spinal muscular atrophy-progressive myoclonic epilepsy syndromeOpen Targets
0.81Strong
Hereditary myoclonus - progressive distal muscular atrophyOpen Targets
0.76Strong
ASAH1-related sphingolipidosisOpen Targets
0.60Moderate
atrial fibrillationOpen Targets
0.58Moderate
hydrops fetalisOpen Targets
0.47Moderate
Non-immune hydrops fetalisOpen Targets
0.46Moderate
Rolandic epilepsyOpen Targets
0.45Moderate
self-limited epilepsy with centrotemporal spikesOpen Targets
0.45Moderate
genetic disorderOpen Targets
0.42Moderate
preeclampsiaOpen Targets
0.41Moderate
alcohol drinkingOpen Targets
0.40Moderate
Intellectual disabilityOpen Targets
0.37Weak
atrial flutterOpen Targets
0.37Weak
cardiac arrhythmiaOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
arthrogryposis multiplex congenitaOpen Targets
0.33Weak
fetal akinesia deformation sequenceOpen Targets
0.33Weak
fetal akinesia deformation sequence 1Open Targets
0.33Weak
keloid formationOpen Targets
0.33Weak
Farber lipogranulomatosisUniProt
Spinal muscular atrophy with progressive myoclonic epilepsyUniProt
Pathogenic Variants127
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders|Ovarian serous cystadenocarcinoma
β˜…β˜…β˜†β˜†2026β†’ Residue 152
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)Pathogenic
not provided|Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|ASAH1-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)Pathogenic
not provided|ASAH1-related disorders|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 49
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_177924.5(ASAH1):c.413A>T (p.Glu138Val)Likely pathogenic
Farber lipogranulomatosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 138
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)Pathogenic
Farber lipogranulomatosis|not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided|ASAH1-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)Pathogenic
not provided|Farber lipogranulomatosis|Abnormality of metabolism/homeostasis
β˜…β˜…β˜†β˜†2025β†’ Residue 333
NM_177924.5(ASAH1):c.412G>T (p.Glu138Ter)Pathogenic
Farber lipogranulomatosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 138
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)Pathogenic
Farber lipogranulomatosis|not provided|ASAH1-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 136
NM_177924.5(ASAH1):c.185G>A (p.Trp62Ter)Pathogenic
not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)Pathogenic
not provided|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome;Farber lipogranulomatosis
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys)Pathogenic
Farber lipogranulomatosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 36
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)Likely pathogenic
Farber lipogranulomatosis|Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 366
NM_177924.5(ASAH1):c.457+4A>GPathogenic
Farber lipogranulomatosis|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024
NM_177924.5(ASAH1):c.174dup (p.Tyr59fs)Pathogenic
Farber lipogranulomatosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)Pathogenic
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_177924.5(ASAH1):c.648+1G>CLikely pathogenic
Farber lipogranulomatosis|not provided
β˜…β˜…β˜†β˜†2024
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg)Pathogenic
not provided|Farber lipogranulomatosis
β˜…β˜…β˜†β˜†2024β†’ Residue 169
NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)Likely pathogenic
Farber lipogranulomatosis
β˜…β˜…β˜†β˜†2024β†’ Residue 97
View on ClinVar β†—
Related Genes
GALCProtein interaction99%CERKProtein interaction98%UGCGProtein interaction98%GLAProtein interaction97%CERS6Protein interaction97%CERS2Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Lung
23%
Bone Marrow
15%
Brain
12%
Liver
6%
Ovary
6%
Gene Interaction Network
Click a node to explore
ASAH1GALCCERKUGCGGLACERS6CERS2
PROTEIN STRUCTURE
Preparing viewer…
PDB5U7Z Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.44LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.14 [0.91–1.44]
RankingsWhere ASAH1 stands among ~20K protein-coding genes
  • #3,874of 20,598
    Most Researched121 Β· top quartile
  • #610of 5,498
    Most Pathogenic Variants127 Β· top quartile
  • #14,747of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedASAH1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Targeting acid ceramidase enhances antitumor immune response in colorectal cancer.
PMID: 38142035
J Adv Res Β· 2024
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
PMID: 29140481
Brain Β· 2017
0.80
4
Ablation of Hepatic Asah1 Gene Disrupts Hepatic Lipid Homeostasis and Promotes Fibrotic Nonalcoholic Steatohepatitis in Mice.
PMID: 39719015
Am J Pathol Β· 2025
0.70
5
Lipid metabolism-related genes are involved in the occurrence of asthma and regulate the immune microenvironment.
PMID: 38297226
BMC Genomics Β· 2024
0.60