NPC1 Antibody (E-9): sc-271334

NPC1 Antibody (E-9) is a mouse monoclonal IgG2a antibody that detects NPC1 in human samples through applications such as western blotting (WB), immunoprecipitation (IP), immunofluorescence (IF), and enzyme-linked immunosorbent assay (ELISA). NPC1 is a crucial protein located in late endosomes and lysosomes, playing a vital role in intracellular cholesterol trafficking. This function is essential because proper cholesterol distribution maintains cellular homeostasis and prevents toxic accumulation, which can lead to severe cellular dysfunction. The human NPC1 gene, located on chromosome 18q11.2, encodes a protein that undergoes N-glycosylation and is predominantly expressed in the brain and liver. Notably, NPC1 contains a cysteine-rich domain that is critical for function, yet this region is highly susceptible to mutations. Such mutations are responsible for Niemann-Pick disease type C (NPC), an autosomal recessive disorder characterized by harmful accumulation of unesterified cholesterol within the endosomal/lysosomal system. The resultant cholesterol buildup leads to progressive neurodegeneration and can be fatal. Over 90% of NPC cases are attributed to mutations in NPC1, with affected individuals exhibiting a range of neurological symptoms, including hepatosplenomegaly, ataxia, dystonia, and dementia. Anti-NPC1 antibody (E-9) is an invaluable tool for researchers studying cholesterol metabolism and the pathophysiology of Niemann-Pick disease.

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NPC1 Antibody (E-9) References:

1. NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C.  |  Davis, OB., et al. 2021. Dev Cell. 56: 260-276.e7. PMID: 33308480
2. Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.  |  Colombo, A., et al. 2021. Nat Commun. 12: 1158. PMID: 33627648
3. The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.  |  Kunkel, TJ., et al. 2023. Nat Commun. 14: 3964. PMID: 37407594
4. NPC1 plays a role in the trafficking of specific cargo to melanosomes.  |  Rus, AA., et al. 2023. J Biol Chem. 299: 105024. PMID: 37423302
5. An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.  |  Ahmad, I., et al. 2023. Cell Commun Signal. 21: 352. PMID: 38098077
6. Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress.  |  Lee, D. and Hong, JH. 2023. Antioxidants (Basel). 12: PMID: 38136141
7. NPC1 is required for postnatal islet β cell differentiation by maintaining mitochondria turnover.  |  Liu, B., et al. 2024. Theranostics. 14: 2058-2074. PMID: 38505613
8. Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C.  |  Qiao, L., et al. 2024. Biochim Biophys Acta Mol Basis Dis. 1870: 167478. PMID: 39173891
9. NPC1 links cholesterol trafficking to microglial morphology via the gastrosome.  |  Zareba, J., et al. 2024. Nat Commun. 15: 8638. PMID: 39366931
10. Deficiency of myeloid NPC1 exacerbates liver injury and fibrosis by impairing macrophage efferocytosis.  |  Guan, D., et al. 2024. J Adv Res.. PMID: 39547438

The preferred NPC1 antibody is NPC1 Antibody (G-1): sc-271335.