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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.
5430414H02Rik; E330005K07Rik; HMLR1; PBD1A; PBD1B; Peroxin-1; peroxisomal biogenesis factor 1; peroxisome biogenesis disorder protein 1; Peroxisome biogenesis factor 1; Pex1; RGD1559939; Zellweger syndrome; ZWS; ZWS1
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