Niemann-Pick Type C1/NPC1 Antibody (1318A)

NPC intracellular cholesterol transporter 1 or Niemann-Pick C1 protein (NPC1) is a 1,278 aminoacids (aa) intracellular cholesterol transporter which plays an important role in cholesterol transport from the endosomal/lysosomal compartment. NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C, a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in either NPC1 or NPC2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Approximately 95% of NPC patients are found to have mutations in the NPC1 gene. In humans, at least one other isoform, missing aa 519-586 is known. Human NPC1 protein sequence is 87% identical to both, mouse and rat NPC1.