{"product_id":"new-product-283289","title":"Niemann Pick C1 polyclonal antibody","description":"\u003cp\u003eCells obtain cholesterol via two distinct pathways, endogenous synthesis in the endoplasmic reticulum and exogenous uptake through the low-density lipoprotein (LDL) receptor pathway. NPC1 is a protein that resides in late endosomes and lysosomes and is involved in the intracellular trafficking of cholesterol. The human NPC1 gene maps to chromosome 18q11.2 and produces proteins which undergo N-glycosylation and are expressed in brain and liver. NPC1 contains a cysteine-rich domain, which is critical for proper protein function, but is highly mutated. Mutations in NPC1 result in Niemann-Pick disease type C (NPC), an autosomal recessive disease characterized by the accumulation of unesterified cholesterol in the endosomal\/lysosomal system. The accumulation of cholesterol results in progressive neurodegeneration and death. More than 90% of cases of NPC are due to mutations in NPC1 and patients with NPC display multiple neurological symptoms, such as hepatosplenomegaly, ataxia, dystonia and dementia.\u003c\/p\u003e","brand":"ABCbiolab","offers":[{"title":"100ul \/ Rabbit \/ Human, Mouse, Rat","offer_id":45809411916056,"sku":"ABCBW11379","price":448.0,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0590\/5652\/1400\/products\/758-7580448_monoclonal-antibody-png-transparent-png_2ef1e7c9-95ce-4aef-b9b4-fb9ff76290b7.png?v=1689758823","url":"https:\/\/danabiosci.com\/products\/new-product-283289","provider":"Dana Bioscience","version":"1.0","type":"link"}