Gene: PEX5

Alternate names for this Gene: PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1|RCDP5

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: peroxisomal biogenesis factor 5

Type of Gene: protein-coding

rs796051881 in PEX5 gene and Asthma PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Chondrodysplasia Punctata, Rhizomelic PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Congenital cataract PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Epilepsy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Growth delay PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Microcephaly (physical finding) PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs61752138 in PEX5 gene and PEROXISOME BIOGENESIS DISORDER 2B PMID 7719337 1995 Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

PMID 10462504 1999 Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

rs796051881 in PEX5 gene and Peripheral Neuropathy PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs796051881 in PEX5 gene and Severe intellectual disability PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.