PEX16 explained

Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.^{[1] [2]}

Function

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described.

Interactions

PEX16 has been shown to interact with PEX19.^[3]

Further reading

• Honsho M, Tamura S, Shimozawa N, etal . Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D . Am. J. Hum. Genet. . 63 . 6 . 1622–30 . 1999 . 9837814 . 10.1086/302161 . 1377633 .
• Sacksteder KA, Jones JM, South ST, etal . Pex19 Binds Multiple Peroxisomal Membrane Proteins, Is Predominantly Cytoplasmic, and Is Required for Peroxisome Membrane Synthesis . J. Cell Biol. . 148 . 5 . 931–44 . 2000 . 10704444 . 10.1083/jcb.148.5.931 . 2174547 .
• Fransen M, Wylin T, Brees C, etal . Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences . Mol. Cell. Biol. . 21 . 13 . 4413–24 . 2001 . 11390669 . 10.1128/MCB.21.13.4413-4424.2001 . 87101 .
• Shimozawa N, Nagase T, Takemoto Y, etal . A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome . Biochem. Biophys. Res. Commun. . 292 . 1 . 109–12 . 2002 . 11890679 . 10.1006/bbrc.2002.6642 .
• Fransen M, Brees C, Ghys K, etal . Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay . Mol. Cell. Proteomics . 1 . 3 . 243–52 . 2002 . 12096124 . 10.1074/mcp.M100025-MCP200 . free .
• Honsho M, Hiroshige T, Fujiki Y . The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly . J. Biol. Chem. . 277 . 46 . 44513–24 . 2003 . 12223482 . 10.1074/jbc.M206139200 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Jones JM, Morrell JC, Gould SJ . PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins . J. Cell Biol. . 164 . 1 . 57–67 . 2004 . 14709540 . 10.1083/jcb.200304111 . 2171958 .
• Gerhard DS, Wagner L, Feingold EA, etal . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Fransen M, Vastiau I, Brees C, etal . Analysis of human Pex19p's domain structure by pentapeptide scanning mutagenesis . J. Mol. Biol. . 346 . 5 . 1275–86 . 2005 . 15713480 . 10.1016/j.jmb.2005.01.013 .
• Brocard CB, Boucher KK, Jedeszko C, etal . Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis . Traffic . 6 . 5 . 386–95 . 2005 . 15813749 . 10.1111/j.1600-0854.2005.00283.x . 24667495 . free .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Kim PK, Mullen RT, Schumann U, Lippincott-Schwartz J . The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER . J. Cell Biol. . 173 . 4 . 521–32 . 2006 . 16717127 . 10.1083/jcb.200601036 . 2063862 .

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Notes and References

1. South ST, Gould SJ . Peroxisome Synthesis in the Absence of Preexisting Peroxisomes . J Cell Biol . 144 . 2 . 255–66 . Mar 1999 . 9922452 . 2132891 . 10.1083/jcb.144.2.255 .
2. Web site: Entrez Gene: PEX16 peroxisomal biogenesis factor 16.
3. Fransen . M . Wylin T . Brees C . Mannaerts G P . Van Veldhoven P P . Jul 2001 . Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences . Mol. Cell. Biol. . 21 . 13 . 4413–24 . 0270-7306. 11390669 . 10.1128/MCB.21.13.4413-4424.2001 . 87101 .