Species Human Entrez 5193 | Human Mouse Ensembl ENSG00000108733 | |
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Aliases PEX12, PAF-3, PBD3A, peroxisomal biogenesis factor 12 External IDs MGI: 2144177 HomoloGene: 240 GeneCards: PEX12 | ||
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.
Contents
Function
PEX12 is needed for protein import into peroxisomes. 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).
Interactions
PEX12 has been shown to interact with PEX10, PEX5 and PEX19.