ASAH1 Gene: Acid Ceramidase 1
Essential regulator of sphingolipid metabolism and lysosomal function
Gene Information Card
| Symbol | ASAH1 |
|---|---|
| Full Name | N-acylsphingosine amidohydrolase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 427 ncbi.nlm.nih.gov/gene/427 |
| Ensembl ID | ENSG00000104331 |
| UniProt ID | Q13510 |
| OMIM ID | 613468 |
| HGNC ID | 735 |
| Aliases | AC, ASAH, PHP, PHP32, SMAPME |
Description
The ASAH1 gene encodes acid ceramidase, a lysosomal enzyme that hydrolyzes ceramide into sphingosine and free fatty acids. This reaction is critical for sphingolipid homeostasis, cell signaling, and apoptosis. Mutations in ASAH1 cause Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Farber disease | Loss-of-function mutations reduce ceramide degradation, leading to ceramide accumulation in lysosomes, causing inflammation and nodular granulomas. | ClinVar, OMIM |
| Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) | Specific missense mutations (e.g., p.Thr222Ala) impair enzyme activity, leading to neuronal ceramide accumulation and neurodegeneration. | ClinVar, OMIM |
| Lung cancer | Altered ASAH1 expression and activity modulate ceramide/sphingosine-1-phosphate balance, influencing tumor growth and drug resistance. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.3 | Low |
| Lung | 7.1 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| A549 | 11.2 | Lung carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | Rare | Loss of function; associated with Farber disease |
| c.664A>G (p.Thr222Ala) | Missense | Rare | Partial loss of function; associated with SMA-PME |
| c.456_457del (p.Gln153fs) | Frameshift | Rare | Null allele; severe Farber disease |
Mutation functional classification
Loss of Function (LOF)
Most ASAH1 mutations reduce or abolish ceramide hydrolysis, leading to lysosomal ceramide accumulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ceramidase activity | • lysosome |
| • sphingolipid metabolic process | • apoptotic process |
| • lipid catabolic process |
Pathways
• Sphingolipid metabolism (KEGG hsa00600)
• Ceramide degradation
• Sphingosine-1-phosphate signaling
Protein Summary
Acid ceramidase (UniProt Q13510) is a 395-amino-acid lysosomal enzyme synthesized as a precursor and cleaved into alpha and beta subunits. It catalyzes the hydrolysis of ceramide to sphingosine and fatty acid, regulating cell fate, inflammation, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAH1 Knockout HEK293 Cell Line | EDJ-KQ17855 | Human | 427 | Details Get a Quote |
| ASAH1 Knockout A-549 Cell Line | EDJ-KQ21602 | Human | 427 | Details Get a Quote |
| ASAH1 Knockout HCT 116 Cell Line | EDJ-KQ21603 | Human | 427 | Details Get a Quote |
| ASAH1 Knockout HeLa Cell Line | EDJ-KQ21604 | Human | 427 | Details Get a Quote |
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