Niemann-Pick Disease, Type C1 Products
(Niemann-Pick Disease, Type C1 (NPC1))
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This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009].
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Niemann-Pick Disease, Type C1 Antibodies
High quality antibodies with extensive validation data.
Niemann-Pick Disease, Type C1 ELISA Kits
Reliable ELISA kits for a wide range of species.
Niemann-Pick Disease, Type C1 Proteins
Proteins for various applications incl. WB, ELISA, IF etc.
Recommended Niemann-Pick Disease, Type C1 Antibodies
Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Application
ELISA, IHC, FACS
Validations
- (2)
- (6)
Cat. No.
ABIN1724840
Quantity
100 μL
Datasheet
Datasheet
Reactivity
Human
Application
ELISA, IHC
Validations
- (2)
- (5)
Cat. No.
ABIN1724876
Quantity
100 μL
Datasheet
Datasheet
Reactivity
Human
Application
ELISA, WB, IHC, IF
Validations
- (5)
Cat. No.
ABIN3031998
Quantity
0.4 mL
Datasheet
Datasheet
Recommended Niemann-Pick Disease, Type C1 ELISA Kits
Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
- (1)
Cat. No.
ABIN6958195
Quantity
96 tests
Datasheet
Datasheet
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
Cat. No.
ABIN6951470
Quantity
96 tests
Datasheet
Datasheet
Reactivity
Chicken
Analytical Method
Quantitative
Validations
Cat. No.
ABIN1056422
Quantity
96 tests
Datasheet
Datasheet
Recommended Niemann-Pick Disease, Type C1 Proteins
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Wheat germ
Validations
- (1)
Cat. No.
ABIN1312849
Quantity
10 μg
Datasheet
Datasheet
Reactivity
Human
Source
HEK-293 Cells
Validations
- (1)
Cat. No.
ABIN7317151
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Human, Mouse, Rat
Source
Escherichia coli (E. coli)
Validations
Cat. No.
ABIN2750647
Quantity
5 applications
Datasheet
Datasheet
Latest Publications for our Niemann-Pick Disease, Type C1 products
: "Stimulation of adenosine A2A receptors reduces intracellular cholesterol accumulation and rescues mitochondrial abnormalities in human neural cell models of Niemann-Pick C1." in: Neuropharmacology, Vol. 103, pp. 155-62, (2016) (PubMed).: "Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells." in: Human molecular genetics, (2016) (PubMed).
: "Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 112, Issue 48, pp. 14876-81, (2015) (PubMed).
: "Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells." in: Stem cell reports, Vol. 2, Issue 6, pp. 866-80, (2014) (PubMed).
: "Lysosomal network proteins as potential novel CSF biomarkers for Alzheimer's disease." in: Neuromolecular medicine, Vol. 16, Issue 1, pp. 150-60, (2014) (PubMed).
: "Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking." in: JIMD reports, Vol. 2, pp. 59-69, (2013) (PubMed).
: "Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site." in: Chemistry & biology, Vol. 20, Issue 3, pp. 391-402, (2013) (PubMed).
: "Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1." in: Human molecular genetics, Vol. 22, Issue 17, pp. 3508-23, (2013) (PubMed).
: "Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease." in: PLoS ONE, Vol. 8, Issue 7, pp. e67084, (2013) (PubMed).
: "Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1." in: Molecular biology of the cell, Vol. 24, Issue 21, pp. 3309-25, (2013) (PubMed).
Synonyms and alternative names related to Niemann-Pick Disease, Type C1
NPC intracellular cholesterol transporter 1 (NPC1), NPC1 like intracellular cholesterol transporter 1 (Npc1l1), NPC intracellular cholesterol transporter 1 (Npc1), Niemann-Pick disease, type C1 (npc1), Niemann-Pick C1 protein (LOC579887), 9130221N23Rik, A430089E03Rik, C85354, Cdig2, D18Ertd139e, D18Ertd723e, Gm243, im:7149020, lcsd, nmf164, NPC, spm, wu:fb53a12, wu:fc29a12Protein level used designations for Niemann-Pick Disease, Type C1
- Niemann-Pick C1 protein
- Niemann-Pick C1-like protein 1
- Niemann-Pick disease, type C1
- Niemann-Pick disease, type C1-like 1
- Niemann-Pick type C1 disease protein
- Nasopharyngeal carcinoma 1
- Niemann-Pick C1
- sphingomyelinosis
- Niemann-Pick C disease protein
- Niemann Pick type C1
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