Overview

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      C-DSIGKDGEKQDL
    • Amino acids
      392 to 403

Specifications

Our Abpromise guarantee covers the use of ab22980 in the following tested applications.

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

  • Applications

    Blocking

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

General Info

  • Alternative names
    • 2610008O20Rik
    • NALD
    • OTTMUSP00000005454
    • Peroxin 13
    • Peroxin-13
    • Peroxin13
    • Peroxisomal membrane protein PEX 13
    • Peroxisomal membrane protein PEX13
    • Peroxisome biogenesis factor 13
    • PEX 13
    • pex13
    • PEX13_HUMAN
    • RP23-188K3.1
    • ZWS
    see all
  • Function
    Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.
  • Involvement in disease
    Defects in PEX13 are the cause of peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:601789]; also known as PBD-CGH. PBD-CG13 is a peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
    Defects in PEX13 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation.
  • Sequence similarities
    Belongs to the peroxin-13 family.
    Contains 1 SH3 domain.
  • Cellular localization
    Peroxisome membrane.
  • Information by UniProt

References

ab22980 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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