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

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Gene Review: 

PTPLA  -  protein tyrosine phosphatase-like (proline...

Canis lupus familiaris

 
 
 
 
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Disease relevance of PTPLA

  • SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs [1].
  • These results also suggest that impaired PTPLA signaling might be implicated in human myopathies [1].
 

Biological context of PTPLA

  • Although the function of PTPLA in metazoa remains unknown, the characterization of a hypomorphic mutation in Labradors with centronuclear myopathy provides new clues about the molecular complexity of skeletal myofiber homeostasis [1].

References

  1. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Pelé, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J. Hum. Mol. Genet. (2005) [Pubmed]
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