Sphingomyelin phosphodiesterase 1 (SMPD1) , also known as ASM ( acid sphingomyelinase ), is a member of the acid sphingomyelinase family of enzymes. Three isoforms have been identified, isoform 1 is 631 amino acids (aa) in length as the pro form, while Isoform 2 and isoform 3 have lost catalytic activity. The active SMPD1 isoform 1 contains one saposin B-type domain that likely interacts with sphingomyelin, and a catalytic region. Human SMPD1 is 86% aa identical to mouse SMPD1. SMPD1 is a monomeric lysosomal enzyme that converts sphingomyelin (a plasma membrane lipid ) into ceramide through the removal of phosphorylcholine. This generates second messenger components that participate in signal transduction. Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) and type B (NPB), also known as Niemann-Pick disease classical infantile form and Niemann-Pick disease visceral form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. NPB has little if any neurologic involvement and patients may survive into adulthood.
Product Name:
Mouse SMPD1/ASM Recombinant Protein (RPES4799)
Product Code:
RPES4799
Size:
10µg
Species:
Mouse
Expressed Host:
Baculovirus-Insect Cells
Synonyms:
A-SMase,ASM,aSMase,Zn-SMase
Accession:
Q04519
Sequence:
Met 1-Leu 626
Fusion tag:
C-His
Activity:
Measured by its ability to cleave 2-N-Hexadecanoylamino-4-nitrophenylphosphorylcholine(HNPPC).The specific activity is > 1,500 pmoles/min/µg.
Endotoxin:
<1.0 EU per µg of the protein as determined by the LAL method.
Protein Construction:
A DNA sequence encoding the mouse SMPD1 (Q04519) (Met 1-Leu 626) was expressed?with a C-terminal polyhistidine tag.
This product is provided as lyophilized powder which is shipped with ice packs.
Stability and Storage:
Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
