PEX2( Human )

Entrez Gene 5828 Entrez Gene 5828
peroxisomal biogenesis factor 2

Alias

PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3

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. [provided by RefSeq, Jul 2008].

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