Species Human Entrez 5828 | Human Mouse Ensembl ENSG00000164751 | |
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Aliases PEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3, peroxisomal biogenesis factor 2 External IDs MGI: 107486 HomoloGene: 269 GeneCards: PEX2 | ||
Peroxisome assembly factor 1 is a protein that in humans is encoded by the PXMP3 gene.
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.
References
PXMP3 Wikipedia(Text) CC BY-SA