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.