"SMPD1" Related Products


Recombinant Human SMPD1 Protein, His-tagged

Cat.No.: SMPD1-537H
Product Overview: Recombinant Human SMPD1 (BAD93012.1) (Met1-Pro628) was expressed with a polyhistidine tag at the C-terminus.
Description: 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.
Source: Baculovirus-Insect Cells
Species: Human
Tag : His
Predicted N Terminal: Leu 47
Form: Lyophilized from sterile 20 mM Tris, 500 mM NaCl, 25 % glycerol, pH 7.5. Normally 5 %- 8 % trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization.
Molecular Mass: The recombinant human SMPD1 consists of 593 amino acids and predicts a molecular mass of 66.3 kDa.
Protein length: Met1-Pro628
Endotoxin: < 1.0 EU per μg protein as determined by the LAL method.
Purity: > 95 % as determined by SDS-PAGE.
Storage: Samples are stable for up to twelve months from date of receipt at-70 centigrade. Store it under sterile conditions at-20 centigrade to-80 centigrade. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
Reconstitution: It is recommended that sterile water be added to the vial to prepare a stock solution of 0.2 ug/ul. Centrifuge the vial at 4ºC before opening to recover the entire contents.
Gene Name: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [ Homo sapiens ]
Official Symbol: SMPD1
Synonyms: SMPD1; sphingomyelin phosphodiesterase 1, acid lysosomal; sphingomyelin phosphodiesterase; acid sphingomyelinase; ASM; NPD; ASMASE;
Gene ID: 6609
mRNA Refseq: NM_000543
Protein Refseq: NP_000534
MIM: 607608
UniProt ID: P17405

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