| Gene Symbol | SMPD1 |
| Aliases | Acid sphingomyelinase, ASM, Page for SMPD1 Gene |
| Chromosome | 11p15.4 |
| Protein Family | Sphingomyelin phosphodiesterase |
| Protein Type | Enzyme |
| Target Class | Enzyme |
| Function | The SMPD1 gene encodes acid sphingomyelinase (ASM), a lysosomal hydrolase enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide and phosphorylcholine. |
| Mechanism of Action | Small molecule inhibitor or modulator of sphingomyelinase activity |
| Primary Expression | neurons, astrocytes, microglia, and oligodendrocytes, with particular importance in white matter tracts |
| Subcellular Localization | Lysosome |
| Druggability | Medium (0.47) |
| Clinical Stage | Approved |
| Molecular Weight | ~75 kDa (mature form) |
| Pathways | Sphingolipid metabolism, Lysosomal degradation, Ceramide signaling |
| UniProt ID | P17405 |
| NCBI Gene ID | 6609 |
| Ensembl ID | ENSG00000166311 |
| OMIM | 257200 |
| GeneCards | SMPD1 |
| Human Protein Atlas | SMPD1 |
| Associated Diseases | ALS, Aging, Alzheimer, Alzheimer's disease, CANCER |
| Known Drugs/Compounds | Olipudase alfa |
| Interactions | NLRP3, NPC1, GBA, CTSD, PROGRANULIN, GBM |
| SciDEX Target | View Target Profile (7 clinical trials) |
| SciDEX Hypotheses | Selective Acid Sphingomyelinase Modulation Therapy TREM2-ASM Crosstalk in Microglial Lysosomal Senesc Senescent Cell ASM-Complement Cascade Intervention |
| KG Connections | 511 knowledge graph edges |
| Databases | GeneCardsHPASTRING |