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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Pitpnm2  -  phosphatidylinositol transfer protein,...

Mus musculus

Synonyms: Drosophila retinal degeneration B homolog 2, Kiaa1457, Membrane-associated phosphatidylinositol transfer protein 2, NIR-3, NIR3, ...
 
 
 
 
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Disease relevance of Pitpnm2

  • Although transgenic expression of M-RdgB2 in rdgB2 null mutant flies suppressed the retinal degeneration, it failed to fully restore the electrophysiological light response [1].
 

High impact information on Pitpnm2

  • Two mammalian homologs, M-RdgB1 and M-RdgB2, are known [2].
  • M-RdgB2 possesses a neuronal-specific expression pattern, with high levels in the retina and the dentate gyrus mossy fibers and dendritic field [1].
 

Biological context of Pitpnm2

  • Because transgenic expression of M-RdgB2 does not restore the wild-type phenotype to rdgB2 mutant flies to the same extent as M-RdgB1, functional differences likely exist between the two M-RdgB homologs [1].
 

Anatomical context of Pitpnm2

 

Analytical, diagnostic and therapeutic context of Pitpnm2

  • To investigate the role of M-RdgB2 in the mammalian retina, we disrupted the m-rdgB2 gene in mice by gene targeting [2].

References

  1. A neuronal-specific mammalian homolog of the Drosophila retinal degeneration B gene with expression restricted to the retina and dentate gyrus. Lu, C., Vihtelic, T.S., Hyde, D.R., Li, T. J. Neurosci. (1999) [Pubmed]
  2. The mammalian retinal degeneration B2 gene is not required for photoreceptor function and survival. Lu, C., Peng, Y.W., Shang, J., Pawlyk, B.S., Yu, F., Li, T. Neuroscience (2001) [Pubmed]
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