gene 720 words KG: SMPD1
Contents

SMPD1 Gene - Acid Sphingomyelinase

🧬 Gene Info
Gene SymbolSMPD1
AliasesAcid sphingomyelinase, ASM, Page for SMPD1 Gene
Chromosome11p15.4
Protein TypeEnzyme
Target ClassEnzyme
FunctionThe SMPD1 gene encodes acid sphingomyelinase (ASM), a lysosomal hydrolase enzyme that catalyzes the hydrolysis of sphingomyelin to ceramide and phosphorylcholine.
Mechanism of ActionSmall molecule inhibitor or modulator of sphingomyelinase activity
Primary Expressionneurons, astrocytes, microglia, and oligodendrocytes, with particular importance in white matter tracts
DruggabilityMedium (0.47)
Clinical StageApproved
Molecular Weight75 kDa
PathwaysSphingolipid metabolism, Lysosomal degradation, Ceramide signaling
UniProt IDP17405
NCBI Gene ID6609
Ensembl IDENSG00000166311
OMIM257200
GeneCardsSMPD1
Human Protein AtlasSMPD1
Associated DiseasesAging, Als, Alzheimer, Alzheimer's disease
Known Drugs/CompoundsOlipudase alfa
InteractionsAGING, ALPHA-SYNUCLEIN, ALS, App, asah1, ASAH1
SciDEX TargetView Target Profile (7 clinical trials)
SciDEX HypothesesSenescent Cell ASM-Complement Cascade Intervention
Selective Acid Sphingomyelinase Modulation Therapy
SMPD1 (Acid Sphingomyelinase) Inhibition for Ceram (+2 more)
KG Connections530 knowledge graph edges
DatabasesGeneCardsHPASTRING

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