Protein-coding gene in humans
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene .[ 5] [ 6]
PEX12 is needed for protein import into peroxisomes.[ 7] Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance [ edit ] 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]
PEX12 has been shown to interact with PEX10 ,[ 8] [ 9] PEX5 [ 8] [ 9] PEX19 .[ 10] [ 11]
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