Aliases for PEX1 Gene
External Ids for PEX1 Gene
Previous HGNC Symbols for PEX1 Gene
Previous GeneCards Identifiers for PEX1 Gene
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
GeneCards Summary for PEX1 Gene
PEX1 (Peroxisomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PEX1 include Peroxisome Biogenesis Disorder 1B and Heimler Syndrome 1. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include four-way junction helicase activity. An important paralog of this gene is SPATA5.
UniProtKB/Swiss-Prot Summary for PEX1 Gene
Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.