What is the official name of the PEX14 gene?
The official name of this gene is “peroxisomal biogenesis factor 14.”
PEX14 is the gene's official symbol. The PEX14 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 PEX14 gene?
- From NCBI Gene:
This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
- From UniProt (PEX14_HUMAN):
Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.
How are changes in the PEX14 gene related to health conditions?
- Genetics Home Reference provides information about Zellweger spectrum disorder, which is associated with changes in the PEX14 gene.
- UniProt (PEX14_HUMAN) provides the following information about the PEX14 gene's known or predicted involvement in human disease.
Peroxisome biogenesis disorder complementation group K (PBD-CGK): 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 13A (PBD13A): 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 Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PEX14 gene.
- Peroxisome biogenesis disorder 13A
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the PEX14 gene and its association with health conditions.
Where is the PEX14 gene located?
Cytogenetic Location: 1p36.22
Molecular Location on chromosome 1: base pairs 10,474,946 to 10,630,758
The PEX14 gene is located on the short (p) arm of chromosome 1 at position 36.22.
More precisely, the PEX14 gene is located from base pair 10,474,946 to base pair 10,630,758 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PEX14?
You and your healthcare professional may find the following resources about PEX14 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 PEX14 gene or gene products?
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 PEX14?
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
See How can I find a genetics professional in my area? in the Handbook.