TBX22 Antibody

1. Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate. PMID: 29932061
2. we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry PMID: 25918826
3. These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway. PMID: 25373698
4. TBX22 is the gene underlying Abruzzo-Erickson syndrome. PMID: 22784330
5. 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. PMID: 21248356
6. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients. PMID: 12374769
7. Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families. PMID: 14729838
8. TBX22 is a target for the small ubiquitin-like modifier SUMO-1 and this modification is required for TBX22 repressor activity. PMID: 17846996
9. TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases. PMID: 17868388
10. Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia. PMID: 19648124

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HGNC: 11600

OMIM: 300307

KEGG: hsa:50945

STRING: 9606.ENSP00000362390

UniGene: Hs.374253