Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
PEX3

PEX3

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PEX3 gene?

The official name of this gene is “peroxisomal biogenesis factor 3.”

PEX3 is the gene's official symbol. The PEX3 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 PEX3 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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). [provided by RefSeq, Oct 2008]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the PEX3 gene related to health conditions?

Genetics Home Reference provides information about Zellweger spectrum, which is associated with changes in the PEX3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PEX3 gene's known or predicted involvement in human disease.

Peroxisome biogenesis disorder complementation group 12 (PBD-CG12): A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

Peroxisome biogenesis disorder 10A (PBD10A): A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PEX3 gene.
  • Peroxisome biogenesis disorder 10A[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the PEX3 gene located?

Cytogenetic Location: 6q24.2

Molecular Location on chromosome 6: base pairs 143,450,780 to 143,490,615

The PEX3 gene is located on the long (q) arm of chromosome 6 at position 24.2.

The PEX3 gene is located on the long (q) arm of chromosome 6 at position 24.2.

More precisely, the PEX3 gene is located from base pair 143,450,780 to base pair 143,490,615 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PEX3?

You and your healthcare professional may find the following resources about PEX3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PEX3 gene or gene products?

  • PBD10A
  • TRG18

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 PEX3?

autosomal ; autosomal recessive ; cardiovascular ; craniofacial ; cysts ; gene ; hypotonia ; neonatal ; neurologic ; organelle ; peroxisomes ; phenotype ; protein ; psychomotor ; recessive ; renal ; spectrum ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: July 14, 2014