Product Information
Molecular Weight46339DaObserved Band:48KD
Protein NameCeroid-lipofuscinosis neuronal protein 5
Human Gene Id1203
Human Swiss Prot NoO75503
Mouse Gene Id211286
Mouse Swiss Prot NoQ3UMW8
SpecificityCLN5 Polyclonal Antibody detects endogenous levels of CLN5 protein
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCLN5; Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5
Functiondisease: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.,SubcellularLocation:lysosome,lysosomalmembrane,endoplasmicreticulum,Golgiapparatus,cytosol,integral component of membrane,perinuclear region of cytoplasm,extracellular exosome,
ExpressionFetal brain,,
Backgroundceroid-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],