Definition of Niemann-Pick disease type C

Niemann-Pick disease type C: Abbreviated NPC. A type of Niemann-Pick disease inherited in an autosomal recessive manner, resulting in lipid storage in the brain and body. At the cellular level, the disorder is characterized by the accumulation of cholesterol and glycolipid. Most (about 95%) of NPC patients have mutations in the NPC1 gene in chromosome 18q11 which encodes a large membrane glycoprotein. The rest (about 5%) of NPC patients have mutations in the NPC2 gene in chromosome 14q24.3 which encodes a small cholesterol-binding protein. The identical biochemical patterns observed in NPC1 and NPC2 mutants suggest that the two NPC proteins function in a coordinate fashion in the cellular transport of cholesterol, glycolipids and other cargo. See also: Niemann-Pick disease


Last Editorial Review: 10/9/2012

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