Gene: NPC2

Alternate names for this Gene: EDDM1|HE1

Gene Summary: This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: NPC intracellular cholesterol transporter 2

Type of Gene: protein-coding

rs104894458 in NPC2 gene and NIEMANN-PICK DISEASE, TYPE C2 PMID 12955717 2003 Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.

PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.

PMID 12447927 2002 Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2.

PMID 18772377 2008 NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes.

PMID 11125141 2000 Identification of HE1 as the second gene of Niemann-Pick C disease.

PMID 11567215 2001 Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

PMID 15937921 2005 Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.

PMID 25038260 2014 A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.

PMID 25772320 2015 Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

PMID 23433426 2013 Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

PMID 28105569 2017 The Spectrum of Niemann-Pick Type C Disease in Greece.