Niemann-Pick C1

Abstract

What is it? Niemann-Pick C1 (NPC1) is a 1278 amino acid membrane protein residing in the endosomal-lysosomal system. Studies in humans and animal models substantiate NPC1 as a crucial player in intracellular cholesterol trafficking. Can we live without it?Mutations in the NPC1 gene result in Niemann-Pick C disease, an autosomal recessive lipid storage disease. Affected patients display progressive neurodegeneration beginning in early childhood, typically leading to death during the teen years. How did it get its name?The first Niemann-Pick patient was described in 1914 by German pediatrician, Albert Niemann, who noted similarities to Gaucher disease. Ludwig Pick later determined that the disease was distinct from Gaucher, and modestly called the disease Niemann-Pick.