Peroxisome biogenesis factor 10 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 ''PEX10''
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 ...
.
Alternative splicing results in two transcript variants encoding different isoforms.
Function
Peroxisome biogenesis factor 10 is involved in import of
peroxisomal
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 per ...
matrix proteins. This protein localizes to the peroxisomal membrane.
Clinical significance
Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal
biogenesis
Spontaneous generation is a superseded scientific theory that held that living creatures could arise from nonliving matter and that such processes were commonplace and regular. It was hypothesized that certain forms, such as fleas, could arise ...
disorders, ranging from neonatal
adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the b ...
to
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 leukodystrophie ...
.
Interactions
PEX10 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
PEX12
Peroxisome assembly protein 12 is a protein that in humans is encoded by the ''PEX12'' gene.
Function
PEX12 is needed for protein import into peroxisomes. This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essen ...
and
PEX19
Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene.
Interactions
PEX19 has been shown to Protein-protein interaction, interact with:
* ABCD1,
* ABCD2,
* ABCD3,
* PEX10,
* PEX11B,
* PEX12,
* PEX ...
.
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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