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PEX1 is 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.
Gene Name: | peroxisomal biogenesis factor 1 |
Synonyms: | PEX1, PBD1A, PBD1B, Peroxisome biogenesis factor 1, ZWS, ZWS1, Zellweger syndrome 1, Peroxin-1, Peroxisome biogenesis gene 1, Zellweger syndrome |
Target Sequences: | NM_000466 NP_000457.1 O43933 |
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