Recombinant人Galactosylceramidase protein (ab116728)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionP54803
    • 种属Human
    • 序列YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFG ASLHILKVEIGGDGQTTDGTEPSHMHYALDGNYFRGYEWWLMKEAKKRNP NITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDY IGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAE LFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRIL NQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVW VSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHS KCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQL DSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKD DFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWA ADASNTISIIGDYNWTNLTTKCDVYIETPDTGGVFIAGRVNKGGILIRSA RGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFAS GMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFRVEATR
    • 分子量97 kDa including tags
    • 氨基酸43 to 669

相关产品

技术指标

Our Abpromise guarantee covers the use of ab116728 in the following tested applications.

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

  • 应用

    SDS-PAGE

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    This protein 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
    • Gacy
    • Galactocerebrosidase
    • Galactocerebroside beta galactosidase
    • Galactosylceramide beta galactosidase
    • galactosylceraminidase
    • Galc
    • GALCERase
    • Twitcher
    see all
  • 相关性Galactosylceramidase hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. It is an enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. It shows highest level of activity in testes compared to brain, kidney, placenta and liver. It can also be found in urine. Defects in Galactosylceramidase are the cause of globoid cell leukodystrophy (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified.
  • 细胞定位Lysosomal.

Recombinant Human Galactosylceramidase protein 图像

  • 12.5% SDS-PAGE of ab116728 stained with Coomassie Blue.

Recombinant Human Galactosylceramidase protein (ab116728)参考文献

ab116728 has not yet been referenced specifically in any publications.

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