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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Peroxin-1; Peroxisomal ATPase PEX1; Peroxisome biogenesis disorder protein 1; Peroxisome biogenesis factor 1; Zellweger syndrome
Gene Aliases: 5430414H02Rik; E330005K07Rik; HMLR1; PBD1A; PBD1B; PEX1; ZWS; ZWS1
UniProt ID: (Human) O43933, (Mouse) Q5BL07
Entrez Gene ID: (Human) 5189, (Mouse) 71382
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