HOXB1/HOXA1/HOXD1 Antibody

1. This is the first disease-associated HOXB1 mutation with a likely loss-of-function effect suggesting that all HOXB1 variants reported so far also have severe impact on activity of this transcriptional regulator PMID: 27144914
2. findings revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene of three members of a Turkish family with hereditary congenital facial paresis (HCFP3) PMID: 27640920
3. HOXB1 functions as a tumor suppressor, regulated by miR-3175 in glioma. PMID: 26565624
4. The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1(-/-) mouse phenotype. PMID: 22770981
5. Hoxb1 Expression Induces Cell Fate Changes in the Trunk Neural Tube. PMID: 21433221
6. analysis of a tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations PMID: 20371328
7. Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes. PMID: 19477923
8. It is unlikely that HoxB1 plays a significant role in the genetic predisposition to autism. PMID: 11840501
9. UTX directly binds to the HOXB1 locus and is required for its activation PMID: 17713478
10. HoxB1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1. PMID: 11069920

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HGNC: 5111

OMIM: 142968

KEGG: hsa:3211

STRING: 9606.ENSP00000355140

UniGene: Hs.99992