Peroxisome assembly protein 12 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 ''PEX12''
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 ...
.
Function
PEX12 is needed for protein import into peroxisomes.
This gene belongs to the peroxin-12 family.
Peroxin
Peroxins (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. Deficiencies are associated with several peroxisomal disorders. Peroxins serve several functions including the recognition of c ...
s (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
Clinical significance
The
peroxisome biogenesis disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are criti ...
s (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).
Interactions
PEX12 has been shown to
interact
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with
PEX10
Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the ''PEX10'' gene. Alternative splicing results in two transcript variants encoding different isoforms.
Function
Peroxisome biogenesis factor 10 is involved in import o ...
,
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 binds ...
[ 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 Spectrum
OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
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