CLN3 : CLN3 lysosomal/endosomal transmembrane protein, battenin
Description
The CLN3 gene provides instructions for making a protein called CLN3. This protein is located within lysosomes, which are tiny compartments within cells responsible for breaking down waste products and cellular debris. Mutations in the CLN3 gene can lead to a buildup of harmful substances within lysosomes, ultimately causing damage to nerve cells and leading to neurodegenerative disorders. These disorders are collectively known as CLN3 disease or Batten disease.
Associated Diseases
Did you know?
CLN3 disease is a rare, inherited disorder that typically affects children. Symptoms often appear in early childhood and include vision loss, seizures, and developmental delays.
