Anti-Nuclear Core Complex monoclonal antibody (DMAB8499)
Mouse anti-Yeast Nuclear Core Complex monoclonal antibody for ICC, WB
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Yeast nuclear preparation.
Nuclear pore complex; HDAC3+NCOR2 complex; NTF97/Importin beta; RanBP2; Nucleoporin, 62kD; nuclear respiratory factor
NPC1 (Niemann-Pick Disease, Type C1) is a Protein Coding gene. Diseases associated with NPC1 include niemann-pick disease, type c1 and niemann-pick disease type c, severe perinatal form. Among its related pathways are Lysosome and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). GO annotations related to this gene include receptor activity and cholesterol binding. An important paralog of this gene is NPC1L1. 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.
The Nuclear Core Complex (NPC) acts as a gateway for macromolecular traffic between the cytoplasm and the nucleus. Niemann-Pick disease C1 (NPC1) [MIM:257220]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. Note=The disease is caused by mutations affecting the gene represented in this entry. Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans it is encoded by the NPC1 gene (chromosome location 18q11). NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C. Niemann-Pick disease, type C is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in either NPC1 or NPC2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Approximately 95% of NPC patients are found to have mutations in the NPC1 gene. The NPC is in turn anchored in the NE by the nuclear lamina, a meshwork of lamins and lamin-associated proteins that forms a 15 nm thick fibrous structure between the inner nuclear membrane and peripheral chromatin.
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Kuo, WR; Tsai, SM; et al. Significance of tumour markers in nasopharyngeal carcinoma. JOURNAL OF OTOLARYNGOLOGY 25:32-36(1996).
LI, O; HEATH, CV; et al. MUTATION OR DELETION OF THE SACCHAROMYCES-CEREVISIAE RAT3/NUP133 GENE CAUSES TEMPERATURE-DEPENDENT NUCLEAR ACCUMULATION OF POLY(A)(+) RNA AND CONSTITUTIVE CLUSTERING OF NUCLEAR-PORE COMPLEXES. MOLECULAR BIOLOGY OF THE CELL 6:401-417(1995).
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody.