Bio Background |
This gene encodes a protein that is involved in lysosomalfunction. Mutations in this, as well as other neuronalceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseasescommonly known as Batten disease or collectively known as neuronalceroid lipofuscinoses (NCLs). Many alternatively spliced transcriptvariants have been found for this gene. |
Bio References |
Adams, H.R., et al. Dev Med Child Neurol 52(7):637-643(2010)Imielinski, M., et al. Nat. Genet. 41(12):1335-1340(2009)Sarpong, A., et al. Clin. Genet. 76(1):38-45(2009)Codlin, S., et al. J. Cell. Sci. 122 (PT 8), 1163-1173 (2009) :Tuxworth, R.I., et al. Hum. Mol. Genet. 18(4):667-678(2009) |