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PEX19

PEX19

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

What is the official name of the PEX19 gene?

The official name of this gene is “peroxisomal biogenesis factor 19.”

PEX19 is the gene's official symbol. The PEX19 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 PEX19 gene?

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

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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 Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

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

Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.

How are changes in the PEX19 gene related to health conditions?

Genetics Home Reference provides information about Zellweger spectrum, which is associated with changes in the PEX19 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PEX19 gene's known or predicted involvement in human disease.

Peroxisome biogenesis disorder complementation group 14 (PBD-CG14): 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). The disease is caused by mutations affecting the gene represented in this entry.

Peroxisome biogenesis disorder 12A (PBD12A): 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. 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 PEX19 gene.
  • Peroxisome biogenesis disorder 12A
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PEX19 gene and its association with health conditions.
OMIM
Number
Title

Where is the PEX19 gene located?

Cytogenetic Location: 1q23.2

Molecular Location on chromosome 1: base pairs 160,276,808 to 160,285,150

The PEX19 gene is located on the long (q) arm of chromosome 1 at position 23.2.

The PEX19 gene is located on the long (q) arm of chromosome 1 at position 23.2.

More precisely, the PEX19 gene is located from base pair 160,276,808 to base pair 160,285,150 on chromosome 1.

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

Where can I find additional information about PEX19?

You and your healthcare professional may find the following resources about PEX19 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 PEX19 gene or gene products?

  • D1S2223E
  • HK33
  • PBD12A
  • PMP1
  • PMPI
  • PXF
  • PXMP1

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 PEX19?

alternative splicing ; autosomal ; autosomal recessive ; cardiovascular ; chaperone ; craniofacial ; cysts ; cytoplasm ; degradation ; gene ; hypotonia ; neonatal ; neurologic ; nucleus ; organelle ; peroxisomes ; phenotype ; protein ; psychomotor ; receptor ; recessive ; renal ; spectrum ; splicing ; syndrome ; transcript

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: May 18, 2015