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 peroxisome biogenesis disorder 2a and peroxisome biogenesis disorder 2b. Among its related pathways are Peroxisome. 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 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.