Genetic Test
NPC1 (NPC Intracellular Cholesterol Transporter 1) encodes the NPC intracellular cholesterol transporter 1 protein, which is responsible for transporting cholesterol within cells. This test targets two gene variants associated with Niemann-Pick disease type C1.
Disease Description
Niemann-Pick disease type C1 is a disorder caused by the abnormal accumulation of cholesterol and other lipids, which are essential for cell membrane formation. This condition mainly arises from a deficiency of enzymes necessary for the transport and breakdown of lipids, leading to the accumulation of cholesterol and lipid components within cells of the nervous system, liver, spleen, kidneys, lungs, and intestines. Skeletal abnormalities are commonly observed in this disorder.
