Recombinant Human HEXA protein (ab116804)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDV SSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVV TPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSA EGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNV FHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRG IRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQ LESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNY MKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYVVEPLAFEGTPEQKA LVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERL SHFRCELLRRGVQAQPLNVGFCEQEFEQT
    • Molecular weight
      84 kDa including tags
    • Amino acids
      1 to 529

Specifications

Our Abpromise guarantee covers the use of ab116804 in the following tested applications.

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

  • Applications

    Western blot

    SDS-PAGE

    ELISA

  • Form
    Liquid
  • Additional notes
    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...

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
    • Beta hexosaminidase alpha chain precursor
    • Beta hexosaminidase subunit alpha
    • Beta N acetylhexosaminidase
    • Beta N acetylhexosaminidase subunit alpha
    • Beta-hexosaminidase A
    • Beta-hexosaminidase subunit alpha
    • Beta-N-acetylhexosaminidase subunit alpha
    • Hexa
    • HEXA_HUMAN
    • Hexosaminidase A
    • Hexosaminidase A (alpha polypeptide)
    • Hexosaminidase A alpha polypeptide
    • Hexosaminidase subunit A
    • MGC99608
    • N acetyl beta glucosaminidase
    • N acetyl beta glucosaminidase subunit alpha
    • N-acetyl-beta-glucosaminidase subunit alpha
    • TSD
    see all
  • Function
    Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.
  • Involvement in disease
    Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]; also known as Tay-Sachs disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset).
  • Sequence similarities
    Belongs to the glycosyl hydrolase 20 family.
  • Post-translational
    modifications
    N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2).
  • Cellular localization
    Lysosome.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE showing ab116804 at approximately 83.93kDa.
    Stained with Coomassie Blue.

References

ab116804 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

Thank you for contacting us.

In fact, this product only includes alpha subunit but not beta subunit.

Full-length, here, is not the whole protein, means full-length of ORF ( AAH18927, 1 a.a. - 529 a.a.)

The molecular weight...

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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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