CLN3
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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.[1][2]
Function
Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.[2]
Clinical significance
Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.
References
Further reading
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External links
- CLN3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses
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