製品の概要

  • 製品名Recombinant Human PEX7 protein
  • タンパク質長Full length protein

製品の詳細

  • 由来Recombinant
  • 由来Escherichia coli
  • アミノ酸配列
    • 生物種Human

特性

Our Abpromise guarantee covers the use of ab75666 in the following tested applications.

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

  • アプリケーション

    Western blot

    ELISA

    SDS-PAGE

  • 製品の状態Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

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

    Preservative: None
    Constituents: 20% Glycerol, 50mM Tris acetate, 1mM EDTA, pH 7.5

関連情報

  • 別名
    • PBD9B
    • PCDP1
    • Peroxin 7
    • Peroxin-7
    • Peroxisomal PTS2 receptor
    • Peroxisomal targeting signal 2 receptor
    • Peroxisome biogenesis factor 7
    • Peroxisome targeting signal 2 receptor
    • PEX7
    • PEX7 protein
    • PEX7_HUMAN
    • PTS2 receptor
    • PTS2R
    • RCDP1
    • RD
    see all
  • 機能Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
  • 組織特異性Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
  • 関連疾患Defects in PEX7 are the cause of peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 13 distinct genetic groups as concluded from complementation studies.
    Defects in PEX7 are the cause of rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]. RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.
    Defects in PEX7 are the cause of peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]. A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure.
  • 配列類似性Belongs to the WD repeat peroxin-7 family.
    Contains 6 WD repeats.
  • 細胞内局在Peroxisome. Cytoplasm.
  • Information by UniProt

Recombinant Human PEX7 protein 画像

  • SDS-PAGE showing ab75666 at approximately 36kDa.

Recombinant Human PEX7 protein (ab75666) 使用論文

ab75666 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab75666.
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"