Recombinant Human Zinc finger protein ZIC 3 (ZIC3)

1. current understanding of ZIC3 function and describe the potential role ZIC3 plays in important signalling pathways and their links to heterotaxy. PMID: 29442328
2. Six novel pathogenic variants were identified in either male patients with heterotaxy or a female patient with multiple male deaths due to heterotaxy in the family. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins. PMID: 27406248
3. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association PMID: 26294094
4. detected the expression level of miR-564 and ZIC3 protein in tissue specimens, and found a significant negative correlation between them. Patients with low levels of miR-564 showed a poorer overall survival PMID: 26498524
5. ZIC3 sequencing from unrelated patients with heterotaxy and congenital heart disease identified variants in 5.2% of sporadic male cases some of which were novel. Functional analyses show aberrant cytoplasmic localization. PMID: 24123890
6. sumoylation targets human ZIC3 primarily on the consensus lysine residue K248, which is critical for the nuclear retention of ZIC3. PMID: 23872418
7. Case Reports: situs inversus totalis and X-linked heterotaxy as a result of novel ZIC3 mutation. PMID: 22171628
8. ZIC3 mutations are an important etiology in sporadic and familial heterotaxy. PMID: 23427188
9. Mutations in Zinc Finger Protein of the Cerebellum 3 were identified in 4 of the 47 patients (8.5%) with heterotaxy syndrome. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies. PMID: 21864452
10. Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3. PMID: 21858219
11. Disruption of Gli3-Zic3 interaction in the critical period for ventral body wall formation may contribute to omphalocele phenotype in Cd chick model. PMID: 21069353
12. we have focused on the regulation of the Zic3 gene, which codes for a zinc finger transcription factor expressed in the organizer region at the beginning of gastrulation PMID: 12963115
13. ZIC3 mutations in three classic heterotaxy kindreds and two sporadic congenital heart defect cases PMID: 14681828
14. Results suggest that Zic3 plays a role in intra-retinal axon targeting, possibly through regulation of the expression of specific downstream genes involved in axon guidance. PMID: 14985256
15. A positional effect caused by the balanced (X;21) translocation may be responsible for functional nullisomy of ZIC3 PMID: 15470371
16. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. PMID: 17185387
17. We studied a series of 42 cases of transposition of the great arteries; mutation in the X chromosome at the ZIC3 gene was found in two affected siblings (one male, one female) and their unaffected mother PMID: 17295247
18. ZIC3 has a role in regulating cardiac gene expression PMID: 17468179
19. in vitro interactions of ZIC3 with GLI3 and the effect of ZIC3 mutations identified in patients with either heterotaxy or isolated cardiovascular malformations. PMID: 17764085
20. results indicate that ZIC3 is imported into the cell nucleus by the Karyopherin (Importin) system and that the impaired nuclear localization by the ZF1 mutation is not due to a direct influence on the nuclear localization signal PMID: 18716025

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HGNC: 12874

OMIM: 300265

KEGG: hsa:7547

STRING: 9606.ENSP00000287538

UniGene: Hs.111227