CLN5 Rabbit Polyclonal Antibody

Ceroid-lipofuscinosis, neuronal 5 (CLN5) Homo sapiens 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 CLN5 are the cause of ceroid lipofuscinosis neuronal 5 (CLN5) [MIM:256731]; also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) . It is a fatal childhood neurodegenerative disease characterized by progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures., online information:Neural Ceroid Lipofuscinoses mutation db, PTM:Glycosylated., similarity:Belongs to the CLN5 family., tissue specificity:Ubiquitous.