Genetic Test
The CLN5 (Ceroid-Lipofuscinosis Neuronal Protein 5) gene encodes a lysosomal protein involved in the breakdown and recycling of lipid-modified proteins within the cell.
This protein functions in the lysosome, a cellular organelle responsible for degrading waste materials and maintaining cellular homeostasis.
Mutations in the CLN5 gene impair lysosomal function, leading to the abnormal accumulation of lipopigments such as ceroid and lipofuscin—hallmark features of neuronal ceroid lipofuscinosis type 5 (NCL5), a progressive and fatal neurodegenerative disorder.
This genetic test targets two known CLN5 mutations associated with NCL5.
Disease Description
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease caused by defects in lysosomal enzymes responsible for the normal degradation of lipofuscin, a cellular waste product composed of lipid and protein residues.
When these enzymes are impaired, lipofuscin accumulates abnormally in neurons as well as in other tissues such as the liver, spleen, and kidneys.
This toxic buildup leads to neuronal loss, cortical atrophy, and degeneration of the cerebellum and retina, resulting in seizures, progressive motor dysfunction, and cognitive decline.
