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Peroxisomal membrane protein PEX14 is a
protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''PEX14''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Function

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 In biochemical protein targeting, a peroxisomal targeting signal (PTS) is a region of the peroxisomal protein that receptors recognize and bind to. It is responsible for specifying that proteins containing this motif are localised to the peroxi ...
. 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 Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophy, l ...
.


Interactions

PEX14 has been shown to
interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...
with *
PEX5 Peroxisomal targeting signal 1 receptor (PTS1R) is a protein that in humans is encoded by the ''PEX5'' gene. PTS1R is a peroxisomal targeting sequence involved in the specific transport of molecules for oxidation inside the peroxisome. SKL bin ...
, *
PEX7 Peroxin-7 is a Receptor (biochemistry), receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. See also * Peroxin External links GeneReviews/NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry o ...
, and * PEX13.


References


Further reading

* * * * * * * * * * * * * * * *


External links


GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
* * * {{PDBe-KB2, O75381, Peroxisomal membrane protein PEX14