View source for Gli3

{{expert-subject|Biology}}

{{protein
|Name=GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)
|caption=
|image=
|width=
|HGNCid=4319
|Symbol=GLI3
|AltSymbols=GCPS, PHS
|EntrezGene=2737
|OMIM=165240
|RefSeq=NM_000168
|UniProt=P10071
|PDB=
|ECnumber=
|Chromosome=7
|Arm=p
|Band=13
|LocusSupplementaryData=
}}

'''Gli3''' is a known [[transcription (genetics)|transcriptional]] [[repressor]] but may also have a positive transcriptional function.<ref>Taipale and Beachy, 2001f</ref><ref>Jacob and Briscoe, 2003</ref>  Gli3 represses [[dHand]] and [[Germlin]] which are involved in developing [[toe|digit]]s<ref>te et al., 2002</ref>  There is evidence that [[Shh]]-controlled processing (e.g cleavage) regulates transcriptional activity of Gli3 similarly to that of [[CI protein|CI]].<ref>Jacob and Briscoe, 2003</ref>  Gli3 mutant mice have many abnormalities including [[central nervous system|CNS]] and [[lung]] defects and limb [[polydactyly]].<ref>Franz, 1994</ref><ref>Grove et al., 1998</ref><ref>Hui and Joyner, 1993</ref><ref>Schimmang et al., 1992</ref> There is evidence that the [[autosome|autosomal]] [[dominant gene|dominant]] disorder [[Greig cephalopolysyndactyly syndrome]] (GCPS) that affects limb and craniofacial development in [[human]]s is caused by a translocations within the GLI3 gene.<ref>Bose et al., 2002</ref>

The independent [[overexpression]] [[Gli1]] and [[Gli2]] in [[mice]] models to lead to formation of [[basal cell carcinoma]] (BCC).  Gli1 knockout is shown to lead to similar [[embryo]]nic malformations as Gli1 overexpressions but not the formation of BCC's.  Overexpression of Gli3 in transgenic mice and frogs does not lead to the development of BCC-like tumors and is not thought to play a role in [[tumor]] BCC formation.<ref>Dahmane et al., 1997</ref>

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 over expression of more that one Gli [[protein]] is not necessary for BCC formation.

==References==
{{reflist|2}}

==External links==
* {{MeshName|GLI3+protein,+human}}

{{Transcription factors}}
[[Category:Genes]]
[[Category:Transcription factors]]
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