Acid sphingomyelinase / SMPD1 (蛋白 | 抗体 | cDNA 克隆 | ELISA 试剂盒)

All Acid sphingomyelinase / SMPD1 reagents are produced in house and quality controlled, including 1 Acid sphingomyelinase / SMPD1 Antibody, 28 Acid sphingomyelinase / SMPD1 Gene, 4 Acid sphingomyelinase / SMPD1 Lysate, 4 Acid sphingomyelinase / SMPD1 Protein, 2 Acid sphingomyelinase / SMPD1 qPCR. All Acid sphingomyelinase / SMPD1 reagents are ready to use.

更多受客户欢迎的产品

Acid sphingomyelinase / SMPD1 分子背景

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.

Acid sphingomyelinase / SMPD1 参考文献

  • Schuchman E.H., et al.,(1991), Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J. Biol. Chem. 266:8531-8539.
  • Newrzella D., et al., (1992), Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.Biol. Chem. Hoppe-Seyler 373:1233-1238.
  • Schuchman E.H., et al.,(1992), Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).Genomics 12:197-205.