Peroxisomal Targeting Signal 2 Receptor

A cytoplasmic receptor and peroxin that contains a series of WD40 REPEATS and binds to PEROXISOME TARGETING SIGNAL 2. It is essential for protein import into PEROXISOMES; mutations in the human PEX7 gene are associated with PEROXISOMAL DISORDERS such as Type 1 CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC.

Also Known As:

PEX7 Protein; PTS2 Protein; PTS2 Receptor; PTS2 Receptors; Peroxin-7; Pex7p; Peroxin 7; Receptor, PTS2; Receptors, PTS2

Networked: 13 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Carrier Proteins: 12999
    - Peroxins: 50
      - Peroxisomal Targeting Signal 2 Receptor: 13
        type 1 Rhizomelic chondrodysplasia punctata: 15
        Arabidopsis PEX7 protein
        human PEX7 protein
        rat Pex7 protein
        S cerevisiae PEX7 protein

Experts

1.	Ghaedi, Kamran: 3 articles (04/2013 - 03/2002)
2.	Baharvand, Hossein: 2 articles (04/2013 - 01/2013)
3.	Mohamadynejad, Parisa: 2 articles (04/2013 - 01/2013)
4.	Nasr-Esfahani, Mohammad Hossein: 2 articles (04/2013 - 01/2013)
5.	Salamian, Ahmad: 2 articles (04/2013 - 01/2013)
6.	Shafeghati, Yousef: 2 articles (04/2013 - 01/2013)
7.	Jansen, Gerbert A: 2 articles (03/2004 - 02/2003)
8.	Wanders, Ronald J A: 2 articles (03/2004 - 02/2003)
9.	Waterham, Hans R: 2 articles (03/2004 - 02/2003)
10.	Karamali, Fereshteh: 1 article (04/2013)

Related Diseases

1.	Rhizomelic Chondrodysplasia Punctata 01/01/2013 - "C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I." 03/15/2002 - "We investigated the molecular dysfunction of Pex7p variants in mammals, including Pex7p-W221ter and Pex7p with one site mutation at G217R, A218V, or L292ter, which frequently occurs in the human fatal genetic peroxisomal disease rhizomelic chondrodysplasia punctata, showing a cell phenotype of PTS2 import defect. " 04/01/1997 - "Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor." 04/01/1997 - "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata." 04/01/1999 - "Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview."
2.	Refsum Disease (Refsum's Disease) 02/27/2007 - "Phenotype of adult Refsum disease due to a defect in peroxin 7." 03/01/2004 - "Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)."
3.	Peroxisomal Disorders (Peroxisomal Disorder) 02/01/2003 - "This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations in PEX7 normally cause rhizomelic chondrodysplasia punctata type 1, a severe peroxisomal disorder. "
4.	Chondrodysplasia Punctata (Stippled Epiphyses) 04/01/2001 - "Importantly, cultured fibroblasts from patients with the rhizomelic form of chondrodysplasia punctata (RCDP) which are deficient for the PTS2 receptor protein, Pex7p, are unable to import the PTS2 reporter in this assay. "

Related Drugs and Biologics

1.	Peroxisomal Targeting Signal 2 Receptor
2.	Proteins (Proteins, Gene)
3.	Mixed Function Oxygenases (Monooxygenases)
4.	Peroxisomal Targeting Signals
5.	type 1 Rhizomelic chondrodysplasia punctata
6.	phytanoyl-coenzyme A (phytanoyl CoA)