Recommended positive controls: Jurkat, Raji, NCI-H929, NT2D1.
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Batten disease protein; Battenin; ceroid-lipofuscinosis, neuronal 3; CLN 3; MGC102840; Protein CLN3
Gene Aliases: BTS; CLN3; JNCL
UniProt ID: (Human) Q13286
Entrez Gene ID: (Human) 1201