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67963 Npc2

67963

Npc2

NPC intracellular cholesterol transporter 2

protein-coding

Mus musculus

基因描述

Type Description
Definition NPC intracellular cholesterol transporter 2

研究结论

Date Results Publications
2019-02-02 11:45:00 these data demonstrate the benefit of a one-time intracisternal administration of AAVrh.10-mNpc2-HA as a life-long treatment for Niemann-Pick type C2 disease 29655638
2018-09-01 12:14:00 accumulation of free cholesterol in late endosomes/lysosomes of Arf6 knockout mouse embryonic fibroblasts results from mistrafficking of Niemann-Pick type C protein 27336679
2018-04-21 11:14:00 complex contributes to intracellular cholesterol transport by targeting NPC2 to lysosomes in a CI-MPR-dependent manner. 28658628
2017-09-02 10:41:00 AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1(-/-) mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease. 28053186
2016-06-04 11:51:00 These findings show that NPC2 secreted by premalignant lung tumours suppresses immature macrophage-lineage cell recruitment to the microenvironment in a paracrine manner. 26183450

名称对应

Type IDs
Synonymous 2700012J19Rik, AA408070, AU045843, HE1
Gene
UniProtKB-ID: NPC2_MOUSE
UniprotKB: Q9Z0J0
UniParc: UPI00000018B9
EMBL: AK170327, AK158624, BC003471, AK151133, AK167869, AK165263, AK008603, AK153203, AK151067, AB021289, AK009127, BC007190, AK153020
Ensembl: ENSMUSG00000021242
KO: mmu:67963
Nucleutide sequences
EMBL-CDS: BAE30141.1, BAE41721.1, BAE30083.1, AAH03471.1, BAE38111.1, BAE39885.1, BAE31654.1, BAE34585.1, BAA35183.1, BAE31803.1, BAB25771.1, AAH07190.1, BAB26090.1
Ensembl_TRS: ENSMUST00000021668
Protein sequencees
Ensembl_PRO: ENSMUSP00000021668
RefSeq: NP_075898.1
Others
UniRef100: UniRef100_Q9Z0J0
UniRef90: UniRef90_Q9Z0J0
UniRef50: UniRef50_Q9Z0J0
UniGene: Mm.282556
CCDS: CCDS26050.1

全选

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