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735 C9

735

C9

complement C9

protein-coding

Homo sapiens

基因描述

Type Description
Definition complement C9

研究结论

Date Results Publications
2019-12-07 11:01:00 Five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in age-related macular degeneration patients. Those genetic variants affect only the secretion and polymerization of C9, without influencing its classical lytic activity. 29767720
2018-11-17 11:56:00 The data supports the assumption that C9 gene expression may stimulate the expression of inflammatory (NLRP3) and angiogenic growth factors (VEGF) in retinal pigment epithelial cells. 30090015
2016-08-13 11:57:00 Serum-expressed apolipoprotein B-100 protein, C9 Complement, and gelsolin can be used for differential diagnosis of Barrertts esophagus and adenocarcinoma of esophagus. 26404905
2016-08-06 10:38:00 Patients with advanced atrophic AMD carried these rare variants more frequently than patients with neovascular AMD (11 of 93 [11.8%] vs 40 of 835 [4.8%]; P = .04). 26767664
2016-01-16 11:12:00 Complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis. 25735751

名称对应

Type IDs
Synonymous ARMD15, C9D
Gene
UniProtKB-ID: CO9_HUMAN
UniprotKB: P02748
UniParc: UPI0000001065
EMBL: Y08549, Y08551, J02833, Y08548, Y08552, Y08554, Y08547, X02176, BC020721, Y08546, Y08550, Y08545, Y08553, K02766
Ensembl: ENSG00000113600
KO: hsa:735
Nucleutide sequences
EMBL-CDS: AAA51889.1, CAA26117.1, CAA69849.1, AAH20721.1, AAA51890.1
Ensembl_TRS: ENST00000263408
Protein sequencees
Ensembl_PRO: ENSP00000263408
RefSeq: NP_001728.1
Others
UniRef100: UniRef100_P02748
UniRef90: UniRef90_P02748
UniRef50: UniRef50_P02748
UniGene: Hs.654443
CCDS: CCDS3929.1

全选

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