Recombinant Human Peroxisomal targeting signal 1 receptor (PEX5)

Uniprot Id

P50542

Target Species

Human

Target Name

PEX5

Target Full Name

Peroxisomal targeting signal 1 receptor

Target Function

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Target Involvement

Peroxisome biogenesis disorder 2A (PBD2A); Peroxisome biogenesis disorder 2B (PBD2B); Rhizomelic chondrodysplasia punctata 5 (RCDP5)

Target Subcellular Location

Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13).

Target Protein Families

Peroxisomal targeting signal receptor family

Target Tissue Specificity

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Target Synonyms

FLJ50634; FLJ50721; FLJ51948; PBD2A; PBD2B; Peroxin 5; Peroxin-5; Peroxisomal biogenesis factor 5; Peroxisomal C terminal targeting signal import receptor; Peroxisomal C-terminal targeting signal import receptor; Peroxisomal targeting signal 1 (SKL type) receptor; Peroxisomal targeting signal 1 receptor; Peroxisomal targeting signal import receptor; Peroxisomal targeting signal receptor 1; Peroxisome receptor 1; pex5; PEX5_HUMAN; PTS1 BP; PTS1 receptor; PTS1-BP; PTS1R; PXR1

Target Background

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified.