Recombinant人Acid sphingomyelinase protein (ab114465)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionP17405
    • 种属Human
    • 序列AIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGH PPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLF
    • 分子量37 kDa including tags
    • 氨基酸529 to 628

技术指标

Our Abpromise guarantee covers the use of ab114465 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Western blot

    SDS-PAGE

    ELISA

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    ab114465 is best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.79% Tris HCl, 0.3% Glutathione

常规信息

  • 别名
    • Acid sphingomyelinase
    • ASM
    • ASM_HUMAN
    • aSMase
    • NPD
    • Smpd1
    • Sphingomyelin phosphodiesterase
    • Sphingomyelin phosphodiesterase 1 acid lysosomal
    see all
  • 功能Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
  • 疾病相关Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) [MIM:257200]; also known as Niemann-Pick disease classical infantile form. It is an early-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. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. 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.
    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.
  • 序列相似性Belongs to the acid sphingomyelinase family.
    Contains 1 saposin B-type domain.
  • 细胞定位Lysosome.
  • Information by UniProt

Recombinant Human Acid sphingomyelinase protein 图像

  • ab114465 analysed on a 12.5% SDS-PAGE stained with Coomassie Blue.

Recombinant Human Acid sphingomyelinase protein (ab114465)参考文献

ab114465 has not yet been referenced specifically in any publications.

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