PEX3
The product of PEX3 is involved in peroxisome biosynthesis and integrity.
PEX3 assembles membrane vesicles before the matrix proteins are translocated.
Pathology
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 (peroxisomal diseases) 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 Zellweger syndrome (ZWS).
Nota Bene: Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.