alternative products:Additional isoforms seem to exist,disease:Defects in CLN3 are the cause of Batten disease [MIM:204200]; also known as juvenile-onset ceroid lipofuscinosis neuronal type 3 (CLN3). Batten disease is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. Biochemically, the disease is characterized by lysosomal accumulation of hydrophobic material, mainly ATP synthase subunit C. Clinical onset is usually from 5 to 10 years of age. No treatment is available and Batten disease is usually fatal within a decade. The incidence is estimated at 1/20000 to 1/100000 live birth, making it one of the most common neurodegenerative diseases of childhood.,online information:Neural Ceroid Lipofuscinoses mutation db,online information:Retina International's Scientific Newsletter,PTM:Highly glycosylated.,similarity:Belongs to the battenin family.,
Lysosome membrane ; Multi-pass membrane protein . Late endosome . Lysosome . Golgi apparatus . Golgi apparatus membrane . Golgi apparatus, Golgi stack . Golgi apparatus, trans-Golgi network . Cell membrane . Recycling endosome . Membrane raft . Membrane, caveola . Early endosome membrane . Cell junction, synapse, synaptosome . Late endosome membrane . Cytoplasmic vesicle, autophagosome . CLN3 is not present in late endosomes/lysosomes in fibroblasts and neurons (PubMed:15240864). Trafficks from cell membrane to Golgi via endosomes (PubMed:15240864). Osmotic stress changes the subcellular localization of CLN3 (PubMed:23840424). Trafficks to intracellular compartments via the plasma membranet through AP3M1-dependent mechanisms (PubMed:14644441). Excluded from the synaptic vesicles (By similarity). .
Expressed in the cortical brain, pancreas, spleen, and testis with weaker expression in the peripheral nerve (at protein level). Highly expressed in gray matter (at protein level).
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