CLN8

Protein CLN8 is a is_associated_with::protein that in humans is encoded by the CLN8 is_associated_with::gene.

Clinical
Mutations in this gene are associated with is_associated_with::progressive epilepsy with mental retardation (EPMR), a subtype of is_associated_with::neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of is_associated_with::sphingolipid and is_associated_with::phospholipids in the is_associated_with::brain.