What is the official name of the PEX5 gene?
The official name of this gene is “peroxisomal biogenesis factor 5.”
PEX5 is the gene's official symbol. The PEX5 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PEX5 gene?
- From Entrez Gene
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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]
- From UniProt:
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Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.
How are changes in the PEX5 gene related to health conditions?
- Genetics Home Reference provides information about Zellweger spectrum, which is associated with changes in the PEX5 gene.
- UniProt provides the following information about the PEX5 gene's known or predicted involvement in human disease.
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Peroxisome biogenesis disorder 2A (PBD2A): A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Note=The disease is caused by mutations affecting the gene represented in this entry.
Peroxisome biogenesis disorder 2B (PBD2B): A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PEX5 gene.
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- Cerebrohepatorenal syndrome, variant types
- Neonatal adrenoleucodystrophy
- UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
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Where is the PEX5 gene located?
Cytogenetic Location: 12p13.31
Molecular Location on chromosome 12: base pairs 7,341,758 to 7,371,169
The PEX5 gene is located on the short (p) arm of chromosome 12 at position 13.31.
More precisely, the PEX5 gene is located from base pair 7,341,758 to base pair 7,371,169 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PEX5?
You and your healthcare professional may find the following resources about PEX5 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the PEX5 gene or gene products?
- PBD2A
- PBD2B
- PTS1-BP
- PTS1R
- PXR1
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PEX5?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.
