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Gene Review: 

Pex7  -  peroxisomal biogenesis factor 7

Mus musculus

Synonyms: PTS2 receptor, Peroxin-7, Peroxisomal targeting signal 2 receptor, peroxisome biogenesis factor 7
 
 
 
 
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Disease relevance of Pex7

 

High impact information on Pex7

  • Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids [1].
  • Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae [1].
  • In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density [1].

References

  1. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Brites, P., Motley, A.M., Gressens, P., Mooyer, P.A., Ploegaert, I., Everts, V., Evrard, P., Carmeliet, P., Dewerchin, M., Schoonjans, L., Duran, M., Waterham, H.R., Wanders, R.J., Baes, M. Hum. Mol. Genet. (2003) [Pubmed]
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