| Gene Symbol | NPC2 |
|---|---|
| Entrez Gene | 403920 |
| Alt Symbol | CE1 |
| Species | Dog |
| Gene Type | protein-coding |
| Description | Niemann-Pick disease, type C2 |
| Other Description | epididymal secretory protein E1|niemann Pick type C2 protein homolog |
| Swissprots | Q28895 |
| Accessions | Q28895 DN346847 DN348892 DN349868 DN392295 S77411 AAB34263 NM_001003242 NP_001003242 |
| Function | 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 (By similarity). {ECO:0000250}. |
| Subcellular Location | Secreted {ECO:0000305}. Endoplasmic reticulum {ECO:0000250}. Lysosome {ECO:0000250}. |
| Tissue Specificity | Epididymis. High levels are found in the caput and corpus regions. Weaker levels in the distal cauda and in the efferent ducts. {ECO:0000269|PubMed:7744512}. |
| Top Pathways | Lysosome |
Niemann-Pick disease, type C2, ELISA Kit - MBS9323585 from MyBioSource
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Canine NPC2 ELISA Kit - E091527 from Biobool
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