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CLN3 is a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.
Gene Name: | ceroid-lipofuscinosis, neuronal 3 |
Synonyms: | CLN3, BTS, Battenin, JNCL, Protein CLN3, Batten disease protein |
Target Sequences: | NM_000086 NP_000077.1 Q13286 |
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