| Gene Symbol |
NPC2
|
| Entrez Gene |
10577
|
| Alt Symbol |
EDDM1, HE1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
Niemann-Pick disease, type C2
|
| Other Description |
Niemann-Pick disease type C2 protein|epididymal protein 1|epididymal secretory protein E1|human epididymis-specific protein 1|tissue-specific secretory protein
|
| Swissprots |
B4DQV7 P61916
|
| Accessions |
EAW81176 EAW81177 EAW81178 P61916 AK222474 BAD96194 AK298975 BAG61069 AK300879 BAG62522 AK311931 BAG34872 BC002532 AAH02532 DQ891907 ABM82833 DQ895093 ABM86019 X67698 CAA47928 NM_006432 NP_006423
|
| 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. {ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377, ECO:0000
|
| Subcellular Location |
Secreted {ECO:0000269|PubMed:19723497}. Endoplasmic reticulum {ECO:0000269|PubMed:19723497}. Lysosome {ECO:0000269|PubMed:19723497}.
|
| Tissue Specificity |
Epididymis. {ECO:0000269|PubMed:19664597}.
|
| Top Pathways |
Lysosome
|
