This gene 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. [provided by RefSeq, Oct 2008],
Immunohistochemistry analysis of paraffin-embedded human cervix carcinoma tissue, using CLN6 Antibody. The picture on the right is blocked with the synthesized peptide.
Western blot analysis of lysates from HeLa cells, using CLN6 Antibody. The lane on the right is blocked with the synthesized peptide.