Peroxisome biogenesis factor 1, also known as PEX1, 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 ...
which in humans is encoded by the ''PEX1''
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 ...
.
This gene encodes a member of the
AAA protein family, a large group of
ATPase
ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, ATP hydrolase, adenosine triphosphatase) are a class of enzymes that catalyze the decomposition of ATP into ADP and a free phosphate ion or ...
s associated with diverse cellular activities. This protein is
cytoplasmic
The cytoplasm describes all the material within a eukaryotic or prokaryotic cell, enclosed by the cell membrane, including the organelles and excluding the nucleus in eukaryotic cells. The material inside the nucleus of a eukaryotic cell and ...
but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into
peroxisome
A peroxisome () is a membrane-bound organelle, a type of microbody, found in the cytoplasm of virtually all eukaryotic cells. Peroxisomes are oxidative organelles. Frequently, molecular oxygen serves as a co-substrate, from which hydrogen perox ...
s and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as
neonatal adrenoleukodystrophy,
infantile Refsum disease, and
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
PEX1 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
PEX6
Peroxisome assembly factor 2 is a protein that in humans is encoded by the ''PEX6'' gene. PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1 and is recruited to the membrane by PEX26.
Function
From yeast ...
and
PEX26.
Related diseases
Mutations in the genes encoding PEX1, along with PEX6, 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 leukodystrophy, l ...
spectrum,
infantile Refsum disease, and
neonatal adrenoleukodystrophy. These genetic diseases are
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
and occur in 1 of every 50,000 births. Because of the autosomal recessive inheritance of Zellweger Syndrome, PEX1 is usually found in
carrier screening gene panels. A very common PEX1 variant, Gly843Asp, is a mild allele well-reported in the literature.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
{{gene-7-stub