NPC Intracellular Cholesterol Transporter 2

Preferred Label : NPC Intracellular Cholesterol Transporter 2;

NCIt synonyms : NPC2; He1; Human Epididymis-Specific Protein 1; Epididymal Secretory Protein E1; Niemann-Pick Disease Type C2 Protein;

NCIt definition : NPC intracellular cholesterol transporter 2 (151 aa, 17 kDa) is encoded by the human NPC2 gene. This protein is involved in the regulation of biliary cholesterol secretion and the export of cholesterol from the lysosome.;

NCIt note : Cholesterol released from LDLs in late endosomes or lysosomes is transferred by NPC intracellular cholesterol transporter 2 to the cholesterol-binding pocket in the N-terminal domain of NPC intracellular cholesterol transporter 1. (UniProt);

Détails

Origin ID

C203995;

UMLS CUI

C1176158;

OMIM relation
- Npc intracellular cholesterol transporter 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- NPC2 protein, human [MeSH Supplementary Concept]
- NPC2 protein, human [MeSH concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- NPC2 Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Azurophilic Granule [NCIt concept]
- Cellular Membrane [NCIt concept]
- Endoplasmic Reticulum [NCIt concept]
- Exosome [NCIt concept]
- Extracellular Space [NCIt concept]
- Lumen of the Lysosome [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Antiviral Response [NCIt concept]
- Autophagy [NCIt concept]
- Cellular Secretion [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Endocytotic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients