Peroxisome assembly factor 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''PEX6''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
PEX6 is an
AAA ATPase that localizes to the
peroxisome. PEX6 forms a hexamer with
PEX1
Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the ''PEX1'' gene.
This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities. This pr ...
and is recruited to the membrane by
PEX26
Peroxisome assembly protein 26 is a protein that in humans is encoded by the ''PEX26'' gene.
Interactions
PEX26 has been shown to interact with PEX1, PEX6 and SUFU
Suppressor of fused homolog is a protein that in humans is encoded by the ' ...
.
Function
From yeast to plants to humans, there is only one verified function of PEX6; PEX6 (and PEX1) removes
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 bind ...
from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can genetically complement plant ''pex6'' mutants, which highlights functional conservation. Work with ''pex6'' mutants in ''
Arabidopsis thaliana'' has shown that PEX6 may have a role in consuming
oil body
An oil body is a lipid-containing structure found in plant cells. The term can refer to at least two distinct kinds of structures in different kinds of plants.
Oil bodies in liverworts
Liverwort complex oil bodies are structures unique to live ...
(plant-specific
lipid droplets). Work with yeast ''pex6'' mutants has shown that PEX6 is a key player in the
autophagy of peroxisomes called pexophagy.
Related diseases
Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as
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 leukodystrophies ...
spectrum,
infantile Refsum disease
Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with ...
, and
neonatal adrenoleukodystrophy
Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum. It has been linked with multiple genes (at least five) associated with peroxisome biogenesis, and has an autosomal recessive pa ...
. These genetic diseases are
autosomal recessive and occur in 1 of every 50,000 births.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum