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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''PEX1''
gene
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.
This gene encodes a member of the
AAA protein
AAA, Triple A, or Triple-A is a three-letter initialism or abbreviation which may refer to:
Airports
* Anaa Airport in French Polynesia (IATA airport code AAA)
* Logan County Airport (Illinois) (FAA airport code AAA)
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family, a large group of
ATPases associated with diverse cellular activities. This protein is
cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into
peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as
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 ...
,
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
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 ...
.
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 using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
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 t ...
and
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 ' ...
.
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
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