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Gene Review

Cln5  -  ceroid-lipofuscinosis, neuronal 5

Mus musculus

Synonyms: A730075N08Rik, Ceroid-lipofuscinosis neuronal protein 5 homolog, Protein CLN5
 
 
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Disease relevance of Cln5

 

High impact information on Cln5

  • The Cln5-/- mice showed loss of vision and accumulation of autofluorescent storage material in the central nervous system (CNS) and peripheral tissues without prominent brain atrophy [1].
  • Prominent loss of a subset of GABAergic interneurons in several brain areas was seen in the Cln5-/- mice [1].
  • In vitro expression of Cln5 in COS-1, HeLa, and neuronal cells further implied that mouse Cln5 is a soluble lysosomal glycoprotein, closely resembling human CLN5 [2].
 

Analytical, diagnostic and therapeutic context of Cln5

References

  1. A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging. Kopra, O., Vesa, J., von Schantz, C., Manninen, T., Minye, H., Fabritius, A.L., Rapola, J., van Diggelen, O.P., Saarela, J., Jalanko, A., Peltonen, L. Hum. Mol. Genet. (2004) [Pubmed]
  2. The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain. Holmberg, V., Jalanko, A., Isosomppi, J., Fabritius, A.L., Peltonen, L., Kopra, O. Neurobiol. Dis. (2004) [Pubmed]
 
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