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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].


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