Niemann-Pick Disease, Type C2 (NPC2)

Niemann-Pick Disease, Type C2, also known as niemann-pick disease type c2, is related to cholesterol ester storage disease and narcolepsy 1, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Niemann-Pick Disease, Type C2 is NPC2 (NPC Intracellular Cholesterol Transporter 2), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Degradation pathway of sphingolipids, including diseases. Affiliated tissues include spleen and lung, and related phenotypes are pulmonary fibrosis and low cholesterol esterification rate