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PEX5 peroxisomal biogenesis factor 5

Gene ID: 5830, updated on 5-Sep-2021
Gene type: protein coding
Also known as: PXR1; PBD2A; PBD2B; PTS1R; RCDP5; PTS1-BP

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. [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Peroxisome biogenesis disorder 2A (Zellweger)
MedGen: C3550273OMIM: 214110GeneReviews: Not available
See labs
Peroxisome biogenesis disorder 2BSee labs
Rhizomelic chondrodysplasia punctata type 5
MedGen: C4225237OMIM: 616716GeneReviews: Not available
See labs

Genomic context

Location:
12p13.31
Sequence:
Chromosome: 12; NC_000012.12 (7188653..7218574)
Total number of exons:
23

Links

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