Rabbit anti-Human PEX7 Polyclonal Antibody

Uniprot Id

O00628

Target Species

Human

Target Name

PEX7

Target Full Name

Peroxisomal targeting signal 2 receptor

Target Function

Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

Target Involvement

Peroxisome biogenesis disorder complementation group 11 (PBD-CG11); Rhizomelic chondrodysplasia punctata 1 (RCDP1); Peroxisome biogenesis disorder 9B (PBD9B)

Target Subcellular Location

Peroxisome. Cytoplasm.

Target Protein Families

WD repeat peroxin-7 family

Target Tissue Specificity

Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

Target Synonyms

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

Target Background

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).