Aliases for PEX7 Gene
External Ids for PEX7 Gene
Previous GeneCards Identifiers for PEX7 Gene
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]
GeneCards Summary for PEX7 Gene
PEX7 (Peroxisomal Biogenesis Factor 7) is a Protein Coding gene. Diseases associated with PEX7 include Rhizomelic Chondrodysplasia Punctata, Type 1 and Peroxisome Biogenesis Disorder 9B. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and peroxisome matrix targeting signal-2 binding. An important paralog of this gene is GEMIN5.
UniProtKB/Swiss-Prot Summary for PEX7 Gene
Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.