Ceroid Lipofuscinosis Neuronal Protein 6 (CLN6)

CLN6 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. CLN6 encodes a deduced 311-amino acid protein with 7 predicted transmembrane domains and a predicted molecular mass of 36 kD. Northern blot analysis detected expression of a major 2.4-kb CLN6 mRNA in adult and embryonic brain and in peripheral tissues of mouse and human. The protein is conserved across vertebrates.