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83483 PLVAP

83483

PLVAP

plasmalemma vesicle associated protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition plasmalemma vesicle associated protein

研究结论

Date Results Publications
2019-10-19 12:31:00 A novel homozygous stop mutation (c.988C>T, p.Q330*) was discovered in PLVAP gene in a newborn with fatal protein-losing enteropathy (PLE), facial dysmorphism, and renal, ocular and cardiac anomalies. 29661969
2019-10-07 10:07:00 PLVAP is essential in the retina during early development for proper retinal vascularization 30698992
2017-07-10 17:05:00 PV-1 transcription was markedly induced in diabetic retina and by VEGF in retinal endothelial cells 19284967
2017-07-10 17:03:00 Expression of plasmalemma vesicle-associated protein (PLVAP) is increased in endothelial cells in the presence of VEGF 22200486
2017-07-10 17:01:00 In Kimba and Akimba mice fluorescein leakage was associated with focal angiogenesis and correlated significantly with Plvap gene expression. 24703908

名称对应

Type IDs
Synonymous DIAR10, FELS, PV-1, PV1, gp68
Gene
UniProtKB-ID: PLVAP_HUMAN
UniprotKB: Q9BX97
UniParc: UPI000003ED36
EMBL: AK096030, AF326591, AL834363, AF348827, BC056414, BC050365, AK074054
Ensembl: ENSG00000130300
KO: hsa:83483
Nucleutide sequences
EMBL-CDS: AAH50365.2, BAC04681.1, AAH56414.1, AAK11226.1, CAD39027.2, BAB84880.1, AAK20040.1
Ensembl_TRS: ENST00000252590
Protein sequencees
Ensembl_PRO: ENSP00000252590
RefSeq: NP_112600.1
Others
UniRef100: UniRef100_Q9BX97
UniRef90: UniRef90_Q9BX97
UniRef50: UniRef50_Q9BX97
UniGene: Hs.107125
CCDS: CCDS32952.1

全选

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