Recombinant Human Epididymal secretory protein E1 (NPC2)

Uniprot Id

P61916

Target Species

Human

Target Name

NPC2

Target Full Name

NPC intracellular cholesterol transporter 2

Target Function

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment. Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport.

Target Involvement

Niemann-Pick disease C2 (NPC2)

Target Subcellular Location

Secreted. Endoplasmic reticulum. Lysosome.

Target Protein Families

NPC2 family

Target Tissue Specificity

Detected in gallbladder bile. Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level). Epididymis.

Target Synonyms

EDDM1; Epididymal protein 1; Epididymal secretory protein; Epididymal secretory protein E1; hE1; Human epididymis-specific protein 1; Niemann-Pick disease type C2; Niemann-Pick disease type C2 protein; NPC intracellular cholesterol transporter 2; NPC2; NPC2_HUMAN; Tissue specific secretory protein

Target Background

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.