概述

描述

  • 性质
    Synthetic
  • 氨基酸序列
    • 种属
      Human
    • 序列
      C-DSIGKDGEKQDL
    • 氨基酸
      392 to 403

技术指标

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.

  • 应用

    Blocking

  • 形式
    Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

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

常规信息

  • 别名
    • 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
  • 功能
    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.
  • 疾病相关
    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.
  • 序列相似性
    Belongs to the peroxin-13 family.
    Contains 1 SH3 domain.
  • 细胞定位
    Peroxisome membrane.
  • Information by UniProt

文献

ab22980 has not yet been referenced specifically in any publications.

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