PXMP3
From Infogalactic: the planetary knowledge core
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Peroxisome assembly factor 1 is a protein that in humans is encoded by the PXMP3 gene.[1][2]
This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.[2]
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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