PEX10 explained

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

Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.^[2]

Clinical significance

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.^[2]

Interactions

PEX10 has been shown to interact with PEX12^{[3] [4]} and PEX19.^{[5] [6]}

Further reading

• Okumoto K, Itoh R, Shimozawa N, etal . Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. . Hum. Mol. Genet. . 7 . 9 . 1399–405 . 1998 . 9700193 . 10.1093/hmg/7.9.1399 . free .
• South ST, Gould SJ . Peroxisome synthesis in the absence of preexisting peroxisomes. . J. Cell Biol. . 144 . 2 . 255–66 . 1999 . 9922452 . 10.1083/jcb.144.2.255 . 2132891 .
• Chang CC, Warren DS, Sacksteder KA, Gould SJ . PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. . J. Cell Biol. . 147 . 4 . 761–74 . 1999 . 10562279 . 10.1083/jcb.147.4.761 . 2156163 .
• 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 .
• Okumoto K, Abe I, Fujiki Y . Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. . J. Biol. Chem. . 275 . 33 . 25700–10 . 2000 . 10837480 . 10.1074/jbc.M003303200 . free .
• Warren DS, Wolfe BD, Gould SJ . Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. . Hum. Mutat. . 15 . 6 . 509–21 . 2000 . 10862081 . 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-# . 196604223 .
• 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 .
• 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 .
• 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 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Book: Shimozawa N, Nagase T, Takemoto Y, etal . Peroxisomal Disorders and Regulation of Genes . Genetic Heterogeneity in Japanese Patients with Peroxisome Biogenesis Disorders and Evidence for a Founder Haplotype for the Most Common Mutation in PEX10 Gene . 544 . 71 . 14713216 . 10.1007/978-1-4419-9072-3_10. Advances in Experimental Medicine and Biology . 2003 . 978-1-4613-4782-8 .
• 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 .
• 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 .
• Gregory SG, Barlow KF, McLay KE, etal . The DNA sequence and biological annotation of human chromosome 1. . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . free .

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. Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ . Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders . Am J Hum Genet . 63 . 2 . 347–59 . December 1998 . 9683594 . 1377304 . 10.1086/301963 .
2. Web site: Entrez Gene: PEX10 peroxisome biogenesis factor 10.
3. Chang CC, Warren DS, Sacksteder KA, Gould SJ . PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import . J. Cell Biol. . 147 . 4 . 761–74 . November 1999 . 10562279 . 2156163 . 10.1083/jcb.147.4.761 .
4. Okumoto K, Abe I, Fujiki Y . Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p . J. Biol. Chem. . 275 . 33 . 25700–10 . August 2000 . 10837480 . 10.1074/jbc.M003303200 . free .
5. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ . PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis . J. Cell Biol. . 148 . 5 . 931–44 . March 2000 . 10704444 . 2174547 . 10.1083/jcb.148.5.931 .
6. Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP . Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences . Mol. Cell. Biol. . 21 . 13 . 4413–24 . July 2001 . 11390669 . 87101 . 10.1128/MCB.21.13.4413-4424.2001 .