ELISA/assay

Mouse Epididymal secretory protein E1 (NPC2) ELISA Kit

MBS7206139

48-Strip-Wells

470 USD

ELISA Kit

Mouse Epididymal secretory protein E1 (NPC2) ELISA Kit

Epididymal secretory protein E1 (NPC2)

epididymal secretory protein E1; Epididymal secretory protein E1; epididymal secretory protein E1; epididymal protein 1; tissue-specific secretory protein; human epididymis-specific protein 1; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; Human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein

NPC2

NPC2; NPC2; HE1; EDDM1; HE1; He1

NPC2_HUMAN

Mouse

Store all reagents at 2-8 degree C.

5453678

NP_006423.1

NM_006432.3

16,570 Da

Lysosome Pathway (99052); Lysosome Pathway (96865)

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. [provided by RefSeq, Jul 2008]

NPC2: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular tag team duo (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport. Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2). 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 C2 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. Belongs to the NPC2 family. Protein type: Secreted; Secreted, signal peptide. Chromosomal Location of Human Ortholog: 14q24.3. Cellular Component: lysosome; endoplasmic reticulum. Molecular Function: protein binding; enzyme binding; cholesterol binding. Biological Process: cholesterol metabolic process; cholesterol homeostasis; cholesterol transport; intracellular sterol transport; regulation of isoprenoid metabolic process; response to virus; intracellular cholesterol transport; cholesterol efflux; phospholipid transport; glycolipid transport. Disease: Niemann-pick Disease, Type C2

48-Strip-Wells

470 USD

96-Strip-Wells

675