PEX10

From Wikipedia, the free encyclopedia

Peroxisome biogenesis factor 10

Identifiers

PEX10; MGC1998; NALD; RNF69

External IDs

OMIM: 602859 MGI: 2684988 HomoloGene: 5671

Gene ontology
Molecular Function:	• protein binding • zinc ion binding • metal ion binding
Cellular Component:	• peroxisome • peroxisomal membrane • membrane
Biological Process:	• peroxisome organization and biogenesis • protein import into peroxisome matrix

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_002617 (mRNA)
NP_002608 (protein)

XM_992743 (mRNA)
XP_997837 (protein)

Location

Chr 1: 2.33 - 2.33 Mb

n/a

Pubmed search

[1]

[2]

Peroxisome biogenesis factor 10, also known as PEX10, is a human gene.^[1]

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.^[1]

[edit] References

^ ^a ^b Entrez Gene: PEX10 peroxisome biogenesis factor 10.

[edit] Further reading

Warren DS, Morrell JC, Moser HW, et al. (1998). "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.". Am. J. Hum. Genet. 63 (2): 347–59. PMID 9683594.
Okumoto K, Itoh R, Shimozawa N, et al. (1998). "Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.". Hum. Mol. Genet. 7 (9): 1399–405. PMID 9700193.
South ST, Gould SJ (1999). "Peroxisome synthesis in the absence of preexisting peroxisomes.". J. Cell Biol. 144 (2): 255–66. PMID 9922452.
Chang CC, Warren DS, Sacksteder KA, Gould SJ (1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.". J. Cell Biol. 147 (4): 761–74. PMID 10562279.
Sacksteder KA, Jones JM, South ST, et al. (2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.". J. Cell Biol. 148 (5): 931–44. PMID 10704444.
Okumoto K, Abe I, Fujiki Y (2000). "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. doi:10.1074/jbc.M003303200. PMID 10837480.
Warren DS, Wolfe BD, Gould SJ (2000). "Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.". Hum. Mutat. 15 (6): 509–21. doi:10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID 10862081.
Fransen M, Wylin T, Brees C, et al. (2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMID 11390669.
Fransen M, Brees C, Ghys K, et al. (2002). "Analysis of mammalian peroxin interactions using a non-transcription-based bacterial two-hybrid assay.". Mol. Cell Proteomics 1 (3): 243–52. PMID 12096124.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Shimozawa N, Nagase T, Takemoto Y, et al. (2004). "Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.". Adv. Exp. Med. Biol. 544: 71. PMID 14713216.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.