Recombinant Human Homeobox protein SIX3 (SIX3)

1. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly have been described. PMID: 28670735
2. Results demonstrate that Six3 silence or loss in glioma is induced by its promoter hypermethylation and Six3 down-regulation contributes to proliferation and invasion of glioma. And this process is involved in activation of Wnt/beta-catenin pathway. Six3 play a suppressor role in the initiation and progression of human glioma and potentially serve as a target for the diagnosis and treatment of human glioma. PMID: 28643150
3. SIX3 is a novel negative transcriptional regulator and acts as a tumor suppressor that directly represses the transcription of AURKA and AURKB in astrocytoma. PMID: 28595628
4. SIX2, SIX3, and SIX4 were correlated with higher TNM stages in lung neoplasms PMID: 27821176
5. High SIX3 expression is associated with Head and Neck Squamous Cell Carcinoma. PMID: 27501229
6. SIX3 may play an important role as a novel suppressor in human lung cancer. PMID: 23977152
7. Mutations in SIX3 is associated with holoprosencephaly. PMID: 22310223
8. There was a positive correlation between the severity of the brain malformation and facial features for SHH, SIX3, and TGIF, but no such correlation was found for ZIC2 mutations. PMID: 21940735
9. SIX3 acts directly upstream of SHH, and the SHH pathway is a key regulator of ventral forebrain patterning and mutations are associated with schizencephaly. PMID: 20157829
10. A mutational screen was done to identify possible SIX3 mutations in a cohort of 149 (M:F 81:68) patients with hypopituitarism and/or midline abnormalities, falling within the spectrum of septo-optic dysplasia and holoprosencephaly. PMID: 19921650
11. The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas. PMID: 12543801
12. Six3 directly binds to geminin PMID: 14973488
13. Seven novel SIX3 mutations found in a cohort of Holoprosencephaly patinets. PMID: 15221788
14. different SIX3 mutations in HPE2 may affect different signaling pathways, and that one of these pathways may involve the nuclear receptor NOR1 PMID: 15523651
15. Occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation. PMID: 15635066
16. Upregulation of Six3 expression in single progenitor cells of the embryonic telencephalon keeps them in an undifferentiated state; Six3 overexpression in mammalian brain depends strictly on the integrity of its DNA-binding domain. PMID: 17576749
17. role for the MTA1 as an upstream modifier of Six3 and indicate that Six3 is a direct stimulator of rhodopsin expression. PMID: 17666527
18. 89% of putative deleterious human SIX3 mutations are significant loss-of-function alleles; a systematic comparison of bioactivities of mutant six3 proteins is demonstrated that confirms a role for six3 in causation of holoprosencephaly. PMID: 18791198
19. These data suggest a direct link between Six3 and Shh regulation during normal forebrain development and in the pathogenesis of holoprosencephaly. PMID: 18836447
20. In a cohort of patients (n = 800) with Holoprosencephaly (HPE), SIX3 mutations were found in 4.7% of probands. Suggests mutations in SIX3 result in more severe HPE than in other cases of non-chromosomal, non-syndromic HPE. PMID: 19346217
21. a novel missense mutation in the SIX3 holoprosencephaly gene was reported. PMID: 19353631
22. Six3 gene is regulated by Pax6, Prox 1, and Msx2 transcription factors. PMID: 11554737

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HGNC: 10889

OMIM: 157170

KEGG: hsa:6496

STRING: 9606.ENSP00000260653

UniGene: Hs.567336