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268294 Zbtb24

268294

Zbtb24

zinc finger and BTB domain containing 24

protein-coding

Mus musculus

基因描述

Type Description
Definition zinc finger and BTB domain containing 24

研究结论

Date Results Publications
2021-03-13 13:17:00 Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome. 32865561
2020-11-21 13:31:00 The ZBTB24-CDCA7 axis regulates HELLS enrichment at centromeric satellite repeats to facilitate DNA methylation. 31970665
2019-12-14 12:04:00 The results demonstrated that the C382Y and C407G mutations in mouse ZBTB24 abolish specific DNA binding and fail to induce Cdca7 expression, modeling the events in immunodeficiency-centromeric instability-facial anomalies syndrome in humans. 31226215
2018-05-19 11:10:00 The biallelic deletion of ZBTB24 provides strong support for the hypothesis that most ICF2 patients suffer from a ZBTB24 loss of function mechanism and confirms that complete absence of ZBTB24 is compatible with human life. This is in contrast to the observed early embryonic lethality in mice lacking functional Zbtb24 28128455
2017-07-22 12:26:00 Transcriptome analysis identified Cdca7 as the top down-regulated gene in Zbtb24 homozygous mutant mESCs, which can be restored by ectopic ZBTB24 expression. Finally, we show that this regulation is conserved between species and that CDCA7 levels are reduced in patients carrying ZBTB24 nonsense mutations 27466202

名称对应

Type IDs
Synonymous BC055367, Bif1, Bsg1, ZNF450
Gene
UniProtKB-ID: ZBT24_MOUSE
UniprotKB: Q80X44
UniParc: UPI00001B508D, UPI000018CE45, UPI000018EFF4
EMBL: BC050933, AY210403, AK146986, AF263010, AK054097, BC055367, AY210402
Ensembl: ENSMUSG00000019826
KO: mmu:268294
Nucleutide sequences
EMBL-CDS: AAO42998.1, AAO42999.1, BAE27589.1, AAK91811.2, AAH55367.1, BAE20695.1, AAH50933.1
Ensembl_TRS: ENSMUST00000080771, ENSMUST00000216656, ENSMUST00000213797
Protein sequencees
Ensembl_PRO: ENSMUSP00000148861, ENSMUSP00000150197, ENSMUSP00000079592
RefSeq: NP_001264158.1, XP_006512811.1, NP_700447.2, NP_001264159.1
Others
UniRef100: UniRef100_Q80X44
UniRef90: UniRef90_Q80X44
UniRef50: UniRef50_Q80X44
UniGene: Mm.258475
CCDS: CCDS23804.1, CCDS87996.1, CCDS87997.1

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