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PEX12 Geneperoxisomal biogenesis factor 12 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. 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. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] |
pex12 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pex12 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PEX12 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PEX12 from the Pathway Commons Protein-Protein Interactions dataset. |
PEX12 Gene SetFrom CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the PEX12 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas. |