Species: Hu
Applications: WB, IHC
Host: Mouse Monoclonal
Species: Hu
Applications: WB, Simple Western
Host: Goat Polyclonal
Species: Hu
Applications: IP, B/N
Host: Mouse Monoclonal
Species: Rt
Applications: ELISA
Species: Hu
Applications: ELISA
Species: Hu
Applications: WB
Species: Hu
Applications: Enzyme Activity
Species: Mu
Applications: Enzyme Activity
Description
The protein encoded by the SMPD1 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). Three transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq)
Bioinformatics
Entrez |
Human |
Uniprot |
Human Human Human Human |
Product By Gene ID |
6609 |
Alternate Names |
- Acid sphingomyelinase
- aSMase
- ASMASE
- ASMsphingomyelin phosphodiesterase
- EC 3.1.4.12
- NPD
- sphingomyelin phosphodiesterase 1, acid lysosomal
|
Research Areas for SMPD1
Find related products by research area and learn more about each of the different research areas below.
Neuroscience