PEX7, Polyclonal Antibody

Anti-PEX7 Antibody (aa204-253) IHC-plus; PEX7; Hspex7p; PBD9B; Peroxin-7; Peroxisomal PTS2 receptor; RD; PTS2R; RCDP1; PTS2 receptor; Human PEX7

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

PEX7 Antibody detects endogenous levels of total PEX7 protein.

Immunoaffinity Purified

PBS (without Mg2+, Ca2+), pH 7.4, 150 mM sodium chloride, 0.02% sodium azide, 50% glycerol

1 mg/ml (lot specific)

Store at -20 degree C for up to one year.

Small volumes of anti-PEX7 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Immunohistochemistry (IHC - Paraffin), Western Blot (WB), ELISA (EIA)

ELISA (1:40000), IHC-P (5 ug/ml), WB (1:500 - 1:1000)

Anti-PEX7 antibody IHC of human breast. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody dilution 5 ug/ml.

Western blot of extracts from NIH-3T3 cells, using PEX7 Antibody. The lane on the right is treated with the synthesized peptide.

30,947 Da

peroxisomal biogenesis factor 7

peroxisomal biogenesis factor 7; peroxin-7; PTS2 receptor; peroxisomal PTS2 receptor; peroxisome targeting signal 2 receptor; peroxisomal targeting signal 2 receptor

Peroxisomal targeting signal 2 receptor

PTS2R; PTS2 receptor  [Similar Products]

PEX7_HUMAN

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

PEX7: Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import. Defects in PEX7 are the cause of peroxisome biogenesis disorder complementation group 11 (PBD-CG11). 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). RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. Defects in PEX7 are a cause of Refsum disease (RD); also known as phytanic acid oxidase deficiency. RD is clinically characterized by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis, cataracts and cardiac impairment. Manifestations of the disease appear in the second or third decade of life. Belongs to the WD repeat peroxin-7 family.

Chromosomal Location of Human Ortholog: 6q23.3

Cellular Component: peroxisomal matrix; peroxisome; cytosol

Molecular Function: protein homodimerization activity; enzyme binding; peroxisome matrix targeting signal-2 binding

Biological Process: fatty acid beta-oxidation; peroxisome organization and biogenesis; neuron migration; protein import into peroxisome matrix; endochondral ossification; ether lipid biosynthetic process

Disease: Peroxisome Biogenesis Disorder 9b; Refsum Disease, Classic; Rhizomelic Chondrodysplasia Punctata, Type 1

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