This antibody is specific to a Human NPC1 fragment conjugated to a carrier protein.
Niemann-Pick disease type C1 is a lysosomal storage disease caused by a mutation in the NPC1 gene. NPC1 encodes an integral membrane protein containing sequence motifs thought to be consistent with a role in intracellular transport of cholesterol to post-lysosomal destinations. Mutations in NPC1 have also been linked with obesity, HIV-AIDS, and Ebola virus.
From the laboratory of Yiannis Ioannou, PhD, Icahn School of Medicine at Mount Sinai.
Part of The Investigator's Annexe program.