BHE13703244
PXMP3 encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The Peroxisome biogenesis factor 2 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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