PEX3 Products

Description

The product of the PEX3 gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS). (provided by RefSeq)

Bioinformatics

Uniprot	AAH14551 Human NM_003630 Human NP_003621 Human NP_003621.1 Human P56589 Human
Product By Gene ID	8504
Alternate Names	DKFZp686N14184 FLJ13531 Peroxin-3 peroxin-3 Peroxisomal assembly protein PEX3 peroxisomal biogenesis factor 3 transformation-related protein 18 TRG18