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PEX2

Official Full Name
peroxisomal biogenesis factor 2
Background
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.
Synonyms
PEX2; peroxisomal biogenesis factor 2; peroxisomal membrane protein 3 (35kD, Zellweger syndrome) , peroxisomal membrane protein 3, 35kDa , PXMP3; PAF 1; peroxin 2; PMP35; RNF72; Zellweger syndrome; ZWS3; 35 kDa peroxisomal membrane protein; PAF-1; PAF1; Peroxin-2; Peroxisomal membrane protein 3; peroxisomal membrane protein 3, 35kDa; Peroxisome assembly factor 1; Peroxisome biogenesis factor 2; PEX2_HUMAN; PMP3; PXMP3; RING finger protein 72; OTTHUMP00000226907; OTTHUMP00000226908; OTTHUMP00000226909; OTTHUMP00000226911; peroxisome assembly factor-1; PBD5A; PBD5B; PAF1, PMP3, ZWS3, PBD5A, PBD5B, PMP35, PXMP3, RNF72; peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)

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