CLN3 Rabbit anti-Human, Mouse, Rat, Polyclonal, Proteintech

Beschrijving

CLN3 is a highly glycosylated, hydrophobic, 438-amino acid protein with 6 transmembrane domains. The CLN3 protein localizes to the lysosomal membrane and plays a role in lysosomal function. It may act as a chaperone involved in the folding and unfolding of other proteins, namely subunit C of the ATP synthase complex. Mutations in the CLN3 gene cause Batten disease, a recessively inherited neurodegenerative disorder of childhood caused by lysosomal accumulation of hydrophobic material, mainly ATP synthase subunit C. Batten disease is the most common form of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). Symptoms of Batten disease include progressive loss of vision, seizures, and psychomotor disturbances.