Recombinant Human HGSNAT protein (ab165416)

Overview

  • Product name
    Recombinant Human HGSNAT protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MALGLCRCFHPRHSMAAFGLFPALPSALNSHPACTCLLDPSTWRPAHVSG PALASSPQILSVFSLGFPGFVNGSCVSRYKPDIIFPPGLPPPDLPSSVSI FYLQLLCSHGHCCITESGPLLSFSNWPPSLVPHFLKSPVHCHQIKLSPAR SPLSEKPPLTWKHHCLAHILTYSPSRLDPHTSFQPPLPLHSLLPPPPPHP LVSPPL
    • Amino acids
      1 to 206
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab165416 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Heparan-alpha-glucosaminide N-acetyltransferase
    • HGNAT_HUMAN
    • HGSNAT
    • TMEM76
    • Transmembrane protein 76
    see all
  • Function
    Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
  • Tissue specificity
    Widely expressed, with highest level in leukocytes, heart, liver, skeletal muscle, lung, placenta and liver.
  • Involvement in disease
    Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C) [MIM:252930]; also known as Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
  • Post-translational
    modifications
    Undergoes intralysosomal proteolytic cleavage; occurs within the end of the first and/or the beginning of the second luminal domain and is essential for the activation of the enzyme.
    Glycosylated.
  • Cellular localization
    Lysosome membrane. Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.
  • Information by UniProt

Images

  • ab165416 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab165416 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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