{"symbol":"PEX1","synonyms":["PBD1B","ZWS","PBD1A","ZWS1","HMLR1"],"name":"peroxisomal biogenesis factor 1","description":"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]","ncbiEntrezGeneId":5189,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5189","proteins":[{"symbol":"PEX1_HUMAN","href":"/api/1.0/protein/PEX1_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}