CLN5 Antibody – Rabbit Polyclonal

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]

CLN5: Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5); also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Belongs to the CLN5 family.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q21.1-q32

Cellular Component: Golgi apparatus; perinuclear region of cytoplasm; lysosomal membrane; endoplasmic reticulum; lysosome; integral to membrane

Molecular Function: mannose binding; protein binding

Biological Process: neurogenesis; signal peptide processing; lysosomal lumen acidification; protein catabolic process; brain development; neuron maturation

Disease: Ceroid Lipofuscinosis, Neuronal, 5