PEX2 Rabbit pAb

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. Synonyma: PAF1, PMP3, ZWS3, PBD5A, PBD5B, PMP35, PXMP3, RNF72, PEX2