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353238 PADI6

353238

PADI6

peptidyl arginine deiminase 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition peptidyl arginine deiminase 6

研究结论

Date Results Publications
2020-11-28 13:10:00 New biallelic mutations in cause recurrent preimplantation embryonic arrest characterized by direct cleavage. 31664658
2019-10-05 10:35:00 We now report 15 further pedigrees in which offspring had disturbance of imprinting, while their mothers had rare, predicted-deleterious variants in maternal effect genes, including NLRP2, NLRP7 and 29574422
2019-02-23 12:55:00 We demonstrated that co-localizes with NLRP7 in human oocytes and preimplantation embryos and reviewed the morphology and genotypes of four products of conception from our patient 29693651
2018-12-22 10:16:00 gene loss causes very early embryonic lethality. 27730629
2017-05-06 10:16:00 Mutations in Cause Female Infertility Characterized by Early Embryonic Arrest 27545678

名称对应

Type IDs
Synonymous PREMBL2, hPADVI
Gene
UniProtKB-ID: PADI6_HUMAN
UniprotKB: Q6TGC4
UniParc: UPI0000253BE7
EMBL: AJ549502, AY443100, AY422079
Ensembl: ENSG00000276747, ENSG00000280949
KO: hsa:353238
Nucleutide sequences
EMBL-CDS: CAD70706.1, AAR38850.1, AAS07634.1
Ensembl_TRS: ENST00000625380, ENST00000619609
Protein sequencees
Ensembl_PRO: ENSP00000485805, ENSP00000483125
RefSeq: NP_997304.3
Others
UniRef100: UniRef100_Q6TGC4
UniRef90: UniRef90_Q6TGC4
UniRef50: UniRef50_Q6TGC4
UniGene: Hs.531598
CCDS: CCDS72715.1

全选

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