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Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12gene.[5][6]
Function
PEX12 is needed for protein import into peroxisomes.[7] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance
The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Chang CC, Lee WH, Moser H, Valle D, Gould SJ (April 1997). "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders". Nat Genet. 15 (4): 385–8. doi:10.1038/ng0497-385. PMID9090384. S2CID20825062.