Summary
Performance
Immunogen
Application
Background
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],disease:Defects in CLN6 are the cause of variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL) [MIM:601780].,online information:Neural Ceroid Lipofuscinoses mutation db,
Research Area
