Recombinant Human Galactosylceramidase protein (ab116728)

Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionP54803
    • SpeciesHuman
    • SequenceYVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQILDYLFKPNFG ASLHILKVEIGGDGQTTDGTEPSHMHYALDGNYFRGYEWWLMKEAKKRNP NITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDY IGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAE LFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRIL NQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVW VSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHS KCIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQL DSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKD DFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWA ADASNTISIIGDYNWTNLTTKCDVYIETPDTGGVFIAGRVNKGGILIRSA RGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFAS GMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFRVEATR
    • Molecular weight97 kDa including tags
    • Amino acids43 to 669

Associated products

Specifications

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.

  • Applications

    SDS-PAGE

  • FormLiquid
  • Additional notesProtein 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...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • Gacy
    • Galactocerebrosidase
    • Galactocerebroside beta galactosidase
    • Galactosylceramide beta galactosidase
    • galactosylceraminidase
    • Galc
    • GALCERase
    • Twitcher
    see all
  • RelevanceGalactosylceramidase 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.
  • Cellular localizationLysosomal.

Recombinant Human Galactosylceramidase protein images

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

References for Recombinant Human Galactosylceramidase protein (ab116728)

ab116728 has not yet been referenced specifically in any publications.

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