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This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.
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Protein Aliases: 35 kDa peroxisomal membrane protein; PAF-1; peroxin 2; Peroxin-2; Peroxisomal membrane protein 3; peroxisomal membrane protein 3, 35 kDa; peroxisomal membrane protein 3, 35kDa; Peroxisome assembly factor 1; peroxisome assembly factor-1; Peroxisome biogenesis factor 2; RING finger protein 72
Gene Aliases: PAF1; PBD5A; PBD5B; PEX2; PMP3; PMP35; PXMP3; RNF72; ZWS3
UniProt ID: (Human) P28328, (Rat) P24392
Entrez Gene ID: (Human) 5828, (Rat) 29534
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