Gene Symbol | Cln3 |
Entrez Gene ID | 12752 |
Full Name | ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) |
Synonyms | AI323623 |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. |