Gene Symbol | NPC2 |
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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 |
Human Niemann Pick C2 full length protein - ab132688 from Abcam
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Human Niemann Pick C2 full length protein - ab200499 from Abcam
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Human Niemann Pick C2 peptide - ab93308 from Abcam
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Human Niemann Pick C2 peptide - ab93309 from Abcam
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Human Niemann Pick C2 protein fragment - ab153100 from Abcam
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NPC2 Antibody Blocking Peptide - LS-E27640 from LifeSpan Bioscience
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NPC2 Antibody Blocking Peptide - LS-E27330 from LifeSpan Bioscience
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Recombinant Human Niemann-Pick type C2 Protein - H00010577-P01 from Novus Biologicals
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Recombinant Human Niemann-Pick type C2 Protein - H00010577-Q01 from Novus Biologicals
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NPC2-Antibody-C-term-Blocking-Peptide - BP6755b from Abgent, a WuXi AppTec company
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NPC2 blocking peptide - GTX88174-PEP from GeneTex
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Niemann Pick C2 Peptide - AC21-2154-P from Abcore
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NPC2 - H00010577-P01-02 from Acris Antibodies
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NPC2 - H00010577-Q01-10 from Acris Antibodies
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NPC2 - H00010577-Q01-25 from Acris Antibodies
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NPC2 Peptide - 42-795P from ProSci
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Npc2 Peptide - 42-456P from ProSci
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HE1 Recombinant Protein - 96-561 from ProSci
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NPC2 fusion protein - ag13719 from Proteintech Group
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Recombinant Human NPC2, His-tagged - NPC2-162H from Creative Biomart
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Recombinant Human NPC2, His-tagged - NPC2-349H from Creative Biomart
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Recombinant Niemann Pick Disease Type C2 (NPC2) - RPL139Hu01 from Uscn Life Science Inc.
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Human Niemann-Pick disease type C2 / NPC2 Protein (His Tag) - 13341-H08H-100 from Sino Biological
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Recombinant Niemann Pick Disease Type C2 (NPC2) - RPL139Hu01 from Cloud-clone
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Recombinant Human Epididymal secretory protein E1(NPC2) - CSB-YP015976HU CSB-EP015976HU CSB-BP015976HU CSB-MP015976HU from Cusabio
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