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126206 NLRP5

126206

NLRP5

NLR family pyrin domain containing 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition NLR family pyrin domain containing 5

研究结论

Date Results Publications
2020-07-25 12:51:00 The identification of two novel maternal-effect variants of NLRP5 associated with poly-abortivity and s multi-locus imprinting disturbances (MLID) adds further evidence to its role in the maintenance of genomic imprinting in early embryos. 31829238
2020-06-06 12:45:00 NLRP2 and NLRP5 are novel mutant genes responsible for human early embryonic arrest. 30877238
2017-09-02 10:14:00 PSMG4 and NLRP5 appear of particular interest as they were found to be associated with more than one clinical phenotype and are implicated in biological processes considered relevant to the pathophysiology of MS. Also, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age of MS clinical onset. Our data suggests PSMG4 and NLPR5 as potential targets for the development of modifying therapies for MS. 28501589
2017-02-18 12:23:00 expression of MATER and NOX4 proteins are closely related to the follicular development and ovulation with particular regard for ovarian aging 27515505
2016-04-30 11:24:00 NLRP5 mutation is associated with multilocus imprinting disorders and reproductive wastage. 26323243

名称对应

Type IDs
Synonymous CLR19.8, MATER, NALP5, PAN11, PYPAF8
Gene
UniProtKB-ID: NALP5_HUMAN
UniprotKB: P59047
UniParc: UPI00001AEEBD
EMBL: AY154460, AC024580, AC011470, AY054986
Ensembl: ENSG00000171487
KO: hsa:126206
Nucleutide sequences
EMBL-CDS: AAO18156.1, AAL15549.1
Ensembl_TRS: ENST00000390649
Protein sequencees
Ensembl_PRO: ENSP00000375063
RefSeq: NP_703148.4
Others
UniRef100: UniRef100_P59047
UniRef90: UniRef90_P59047
UniRef50: UniRef50_P59047
UniGene: Hs.356872
CCDS: CCDS12938.1

全选

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研究热度

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