Gene CLN5
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Also known as
ceroid lipofuscinosis neuronal 5, CLN5 intracellular trafficking proteinOverview
CLN5 (Ceroid Lipofuscinosis Neuronal 5) encodes a soluble lysosomal glycoprotein involved in lysosomal function and intracellular trafficking. The protein interacts with other CLN proteins and plays a role in lipid metabolism and autophagy within lysosomes.Mutations in CLN5 cause CLN5 disease, a form of neuronal ceroid lipofuscinosis (NCL, also called Batten disease). This is a severe neurodegenerative disorder characterized by progressive vision loss, seizures, cognitive decline, and motor deterioration typically beginning in early childhood. NCLs result from the accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cells due to lysosomal dysfunction.
Understanding your CLN5 genetic status is important for carrier screening and diagnosis of NCL. Early identification of pathogenic variants enables genetic counseling for families at risk and may allow access to emerging therapies including gene therapy approaches.