PEX12 (Peroxisomal Biogenesis Factor 12) is a Protein Coding gene. Diseases associated with PEX12 include Peroxisome Biogenesis Disorder 3B and Peroxisome Biogenesis Disorder 3A. Among its related pathways are Peroxisome. PEX12 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).
