Official Full Name
peroxisomal 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).
PEX12; peroxisomal biogenesis factor 12; peroxisome assembly protein 12; CG3; PAF 3; Peroxin 12; Peroxin12; Peroxisome assembly factor 3; Peroxisome biogenesis disorder, complementation group 3, included; PEX 12; peroxin-12; OTTHUMP00000163882; PAF-3; zgc:56182