Aliases for PEX5 Gene
External Ids for PEX5 Gene
Previous HGNC Symbols for PEX5 Gene
Previous GeneCards Identifiers for PEX5 Gene
The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
GeneCards Summary for PEX5 Gene
PEX5 (Peroxisomal Biogenesis Factor 5) is a Protein Coding gene. Diseases associated with PEX5 include Rhizomelic Chondrodysplasia Punctata, Type 5 and Peroxisome Biogenesis Disorder 2B. Among its related pathways are Glucose / Energy Metabolism and Peroxisome. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein N-terminus binding. An important paralog of this gene is PEX5L.
UniProtKB/Swiss-Prot Summary for PEX5 Gene
Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.