What is the effect of a defective CLN3 gene?
['Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. ', 'human CLN3 that is defective in Batten disease, localizes to the vacuole', 'JNCL results from mutations in CLN3 on chromosome 16p12.1.', 'Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease.', 'Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function.', 'the human CLN3 gene that is defective in Batten disease,', 'ln3 was recently identified as the gene defective in juvenile Batten disease, an inherited neurodegenerative disease of childhood', 'Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. ']
['Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease.']
['Batten disease', 'juvenile-onset neuronal ceroid lipofuscinosis', 'JNCL']