{"symbol":"CLN6","synonyms":["CLN4A","HST18960","NCLF"],"name":"ceroid-lipofuscinosis, neuronal 6, late infantile, variant","description":"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]","ncbiEntrezGeneId":54982,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/54982","proteins":[{"symbol":"CLN6_HUMAN","href":"/api/1.0/protein/CLN6_HUMAN"}],"hgncRootFamilies":[]}