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SMPD1
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular, Secreted (different isoforms)
Single cell type specificity
Cell type enhanced (Late spermatids, Distal enterocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (ASC diff, fHDF/TERT166)
Interaction
Monomer. Interacts with SORT1; the interaction is required for SMPD1 targeting to lysosomes (PubMed:16787399).
Molecular function
Glycosidase, Hydrolase
More Types Infomation
- Recombinant Mouse Anti-SMPD1 Antibody (CBL969) (NEUT-1976CQ)
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- Species Reactivity: Human
- Type: IgG2a
- Application: ELISA, IP, Neut
- Recombinant Mouse Anti-SMPD1 Antibody (CBL631) (NEUT-1975CQ)
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- Species Reactivity: Human
- Type: IgG2a
- Application: IP, Neut
-
- Species Reactivity: Human
- Type: Mouse antibody
- Application: WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a, κ
- Application: WB, IP, ELISA
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For Research Use Only. Not For Clinical Use.