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

Gene: ISCA2

Alternate names for this Gene: HBLD1|ISA2|MMDS4|c14_5557

Gene Summary: The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: iron-sulfur cluster assembly 2

Type of Gene: protein-coding

rs767352340 in NPC2;ISCA2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 29359243 2018 Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

rs80358260 in NPC2;ISCA2 gene and NIEMANN-PICK DISEASE, TYPE C2 PMID 21084287 2011 Somatic cell plasticity and Niemann-Pick type C2 protein: fibroblast activation.

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 11333381 2001 Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

PMID 16757520 2006 Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.

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 22073306 2011 Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease.

rs80358260 in NPC2;ISCA2 gene and Niemann-Pick Disease, Type C PMID 25236789 2014 Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

PMID 17470133 2007 Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

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

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

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

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.