Entrez gene ID | | 1201 |
Official gene symbol | | CLN3 |
Full name | | ceroid-lipofuscinosis, neuronal 3 |
Aliases | | ,BTS,JNCL,MGC102840, |
Gene summary | | This gene encodes 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. [provided by RefSeq] |
Location | | Chromosome: 16 Locus: 16p12.1 |
Gene position | | 28503623 - 28488600 Map Viewer |
Gene orientation | | minus |
Gene size | | 15024 bp |
Gene sequence |
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OMIM ID | | 607042 |
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