GLI3
Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene.[5][6]
This gene encodes a
Role in development
Gli3 is a known
Disease association
Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B.[6] DNA copy-number alterations that contribute to increased conversion of the oncogenes Gli1–3 into transcriptional activators by the Hedgehog signaling pathway are included in a genome-wide pattern, which was found to be correlated with an astrocytoma patient's outcome.[16][17]
There is evidence that the
Interactions with Gli1 and Gli2
The independent
Gli1 and Gli2 overexpression leads to BCC formation in mouse models and a one step model for tumour formation has been suggested in both cases. This also indicates that Gli1 and/or Gli2 overexpression is vital in BCC formation. Co-overexpression of Gli1 with Gli2 and Gli2 with Gli3 leads to transgenic mice malformations and death, respectively, but not the formation of BCC. This suggests that overexpression of more than one Gli protein is not necessary for BCC formation.
Interactions
GLI3 has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000106571 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021318 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 2118997.
- ^ a b c "Entrez Gene: GLI3 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)".
- S2CID 4414768.
- ^ PMID 12897799.
- PMID 11850405.
- PMID 17959802.
- PMID 7976186.
- PMID 9584130.
- S2CID 345712.
- PMID 1289066.
- PMID 26238476.
- PMID 30397684.
- PMID 27798635.
- PMID 11978771.
- S2CID 4424572.
- PMID 10075717.
- PMID 20360384.
- ^ PMID 11238441.
External links
- GeneReviews/NCBI/NIH/UW entry on Pallister-Hall Syndrome
- GeneReviews/NCBI/NIH/UW entry on Greig Cephalopolysyndactyly Syndrome
- GLI3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.