Acid sphingomyelinase protein (Tagged) (ab132844)
Constituents: 0.31% Glutathione, 0.79% Tris HCl
Note: Reduced glutathione
Our Abpromise guarantee covers the use of ab132844 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||WB: Use at an assay dependent concentration.|
|SDS-PAGE||SDS-PAGE: Use at an assay dependent concentration.|
|ELISA||ELISA: Use at an assay dependent concentration.|
- Acid sphingomyelinaseASMASM_HUMAN
- aSMaseNPDSmpd1Sphingomyelin phosphodiesteraseSphingomyelin phosphodiesterase 1 acid lysosomal
Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPDB) [MIM:607616]; also known as Niemann-Pick disease visceral form. It is a late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.
Contains 1 saposin B-type domain.
References for Acid sphingomyelinase protein (Tagged) (ab132844)
ab132844 has not yet been referenced specifically in any publications.