Products

Enzyme-linked Immunoabsorbent Assay

Western Blot (Recombinant protein)

Antibody Production

Protein Array

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

PEX7

Gene Alias

PTS2R, RCDP1, RD

Gene Description

peroxisomal biogenesis factor 7

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

OTTHUMP00000017277|peroxin-7|peroxisomal PTS2 receptor|peroxisome targeting signal 2 receptor