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PEX2 / PAF-1 is 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.
Gene Name: | peroxisomal biogenesis factor 2 |
Synonyms: | PEX2, PBD5B, PBD5A, Peroxisome assembly factor 1, Peroxisome assembly factor-1, PMP35, PXMP3, RNF72, PAF-1, ZWS3, Peroxin-2, Peroxisomal membrane protein 3, Peroxisome biogenesis factor 2, PMP3, RING finger protein 72 |
Target Sequences: | NM_000318 NP_000309.1 P28328 |
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