Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      KGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGLGEDWNVEK GTSAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELL
    • Amino acids
      19 to 114
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159143 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
    • 2-oxoglutarate 5-dioxygenase 1
    • EDS6
    • LH
    • LH1
    • LLH
    • Lysine hydroxylase
    • Lysyl hydroxylase 1
    • PLOD
    • Plod1
    • PLOD1_HUMAN
    • Procollagen lysine 1 2 oxoglutarate 5 dioxygenase 1
    • Procollagen lysine 2 oxoglutarate 5 dioxygenase 1
    • Procollagen-lysine
    see all
  • Function
    Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.
  • Involvement in disease
    Defects in PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment.
    Defects in PLOD1 are the cause of Nevo syndrome (NEVOS) [MIM:601451]. This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity.
  • Sequence similarities
    Contains 1 Fe2OG dioxygenase domain.
  • Cellular localization
    Rough endoplasmic reticulum membrane.
  • Information by UniProt

Images

  • ab159143 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159143 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab159143.
Please use the links above to contact us or submit feedback about this product.

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

Sign up