Recombinant Human Peroxisomal biogenesis factor 3 (PEX3), Truncated

Uniprot Id

P56589

Target Species

Human

Target Name

PEX3

Target Full Name

Peroxisomal biogenesis factor 3

Target Function

Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.

Target Involvement

Peroxisome biogenesis disorder complementation group 12 (PBD-CG12); Peroxisome biogenesis disorder 10A (PBD10A); Peroxisome biogenesis disorder 10B (PBD10B)

Target Subcellular Location

Peroxisome membrane; Multi-pass membrane protein.

Target Protein Families

Peroxin-3 family

Target Tissue Specificity

Found in all examined tissues.

Target Synonyms

PEX3; Peroxisomal biogenesis factor 3; Peroxin-3; Peroxisomal assembly protein PEX3

Target Background

The product of this 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).