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- Table of Contents
1 Citations 6 Q&As
Facts about NPC intracellular cholesterol transporter 2.
NPC2 binds unesterified cholesterol that has been released from LDLs from 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 can be exported from the limiting membrane of late endosomes/ lysosomes into the ER and plasma membrane by an unknown mechanism.
Human | |
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Gene Name: | NPC2 |
Uniprot: | P61916 |
Entrez: | 10577 |
Belongs to: |
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NPC2 family |
EDDM1; Epididymal Protein 1; epididymal secretory protein E1; HE1; HE1epididymal protein 1; Human epididymis-specific protein 1; MGC1333; Niemann-Pick disease type C2 protein; Niemann-Pick disease, type C2; NiemannPick Type C2; Niemann-Pick Type C2; NPC2; NP-C2; tissue-specific secretory protein
Mass (kDA):
16.57 kDA
Human | |
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Location: | 14q24.3 |
Sequence: | 14; NC_000014.9 (74479935..74493512, complement) |
Epididymis.
Secreted. Endoplasmic reticulum. Lysosome. Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes.
PMID: 8418812 by Krull N., et al. Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs.
PMID: 17018531 by Liou H.L., et al. NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols.
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