Gene Review:
PEX7 - peroxisomal biogenesis factor 7
Homo sapiens
Synonyms:
PBD9B, PTS2 receptor, PTS2R, Peroxin-7, Peroxisomal targeting signal 2 receptor, ...
- Identification of PAHX, a Refsum disease gene. Mihalik, S.J., Morrell, J.C., Kim, D., Sacksteder, K.A., Watkins, P.A., Gould, S.J. Nat. Genet. (1997)
- Identification of PEX7 as the second gene involved in Refsum disease. van den Brink, D.M., Brites, P., Haasjes, J., Wierzbicki, A.S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G.A., Waterham, H.R., Wanders, R.J. Am. J. Hum. Genet. (2003)
- PTS2 protein import into mammalian peroxisomes. Legakis, J.E., Terlecky, S.R. Traffic (2001)
- The human peroxisomal targeting signal receptor, Pex5p, is translocated into the peroxisomal matrix and recycled to the cytosol. Dammai, V., Subramani, S. Cell (2001)
- Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Motley, A.M., Hettema, E.H., Hogenhout, E.M., Brites, P., ten Asbroek, A.L., Wijburg, F.A., Baas, F., Heijmans, H.S., Tabak, H.F., Wanders, R.J., Distel, B. Nat. Genet. (1997)
- Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S.J., Valle, D. Nat. Genet. (1997)
- PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H., Valle, D. Genomics (2000)
- Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P.K., Clarke, J.T., Boneh, A., Moser, A., Moser, H., Valle, D. Hum. Mutat. (2002)
- The mammalian peroxin Pex5pL, the longer isoform of the mobile peroxisome targeting signal (PTS) type 1 transporter, translocates the Pex7p.PTS2 protein complex into peroxisomes via its initial docking site, Pex14p. Otera, H., Harano, T., Honsho, M., Ghaedi, K., Mukai, S., Tanaka, A., Kawai, A., Shimizu, N., Fujiki, Y. J. Biol. Chem. (2000)
- Molecular Mechanisms of Import of Peroxisome-targeting Signal Type 2 (PTS2) Proteins by PTS2 Receptor Pex7p and PTS1 Receptor Pex5pL. Mukai, S., Fujiki, Y. J. Biol. Chem. (2006)
- A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. Papaioannou, M., Bessant, D., Payne, A., Bellingham, J., Rougas, C., Loutradis-Anagnostou, A., Gregory-Evans, C., Balassopoulou, A., Bhattacharya, S. J. Med. Genet. (1998)
- Isolation of Chinese hamster ovary cell pex mutants: two PEX7-defective mutants. Yanago, E., Hiromasa, T., Matsumura, T., Kinoshita, N., Fujiki, Y. Biochem. Biophys. Res. Commun. (2002)
- Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. Ghys, K., Fransen, M., Mannaerts, G.P., Van Veldhoven, P.P. Biochem. J. (2002)
- Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes. Girzalsky, W., Rehling, P., Stein, K., Kipper, J., Blank, L., Kunau, W.H., Erdmann, R. J. Cell Biol. (1999)
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R.J., Kondo, N. Brain Dev. (2003)
- Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. Rizzo, W.B., Craft, D.A., Judd, L.L., Moser, H.W., Moser, A.B. Biochem. Med. Metab. Biol. (1993)
- Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import. Otera, H., Setoguchi, K., Hamasaki, M., Kumashiro, T., Shimizu, N., Fujiki, Y. Mol. Cell. Biol. (2002)
- Disruption of the interaction of the longer isoform of Pex5p, Pex5pL, with Pex7p abolishes peroxisome targeting signal type 2 protein import in mammals. Study with a novel Pex5-impaired Chinese hamster ovary cell mutant. Matsumura, T., Otera, H., Fujiki, Y. J. Biol. Chem. (2000)
- Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Jansen, G.A., Waterham, H.R., Wanders, R.J. Hum. Mutat. (2004)
- Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Shimozawa, N., Tsukamoto, T., Nagase, T., Takemoto, Y., Koyama, N., Suzuki, Y., Komori, M., Osumi, T., Jeannette, G., Wanders, R.J., Kondo, N. Hum. Mutat. (2004)
- Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Purdue, P.E., Skoneczny, M., Yang, X., Zhang, J.W., Lazarow, P.B. Neurochem. Res. (1999)