PEX10
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.[1][2] Alternative splicing results in two transcript variants encoding different isoforms.
Function
[edit | edit source]Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.[2]
Clinical significance
[edit | edit source]Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.[2]
Interactions
[edit | edit source]PEX10 has been shown to interact with PEX12[3][4] and PEX19.[5][6]
References
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Further reading
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External links
[edit | edit source]- 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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