Recombinant人PEX7 protein (ab75666)

概述

  • 产品名称Recombinant人PEX7 protein
  • 蛋白长度Full length protein

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • 种属Human

技术指标

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.

  • 应用

    Western blot

    ELISA

    SDS-PAGE

  • 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. Avoid freeze / thaw cycles.

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

常规信息

  • 别名
    • 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
  • 功能Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.
  • 组织特异性Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
  • 疾病相关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.
  • 序列相似性Belongs to the WD repeat peroxin-7 family.
    Contains 6 WD repeats.
  • 细胞定位Peroxisome. Cytoplasm.
  • Information by UniProt

Recombinant Human PEX7 protein 图像

  • SDS-PAGE showing ab75666 at approximately 36kDa.

Recombinant Human PEX7 protein (ab75666)参考文献

ab75666 has not yet been referenced specifically in any publications.

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