GLI2
GLI2 is a protein that in humans is encoded by the GLI2 gene. It is a member of the GLI-Kruppel family of zinc finger proteins. This protein is a transcription factor that acts as a mediator of Sonic hedgehog (Shh) signaling, a pathway that regulates body patterning and differentiation during embryogenesis.
Function[edit | edit source]
The GLI2 gene encodes a protein that belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized by the presence of three zinc-finger domains in the C-terminal region of the protein. They function as transcription factors which convert Shh signal into transcriptional output in embryonic tissues. 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.
Clinical significance[edit | edit source]
Mutations in the GLI2 gene are associated with several human diseases. For example, loss-of-function mutations cause holoprosencephaly, a disorder in which the developing forebrain fails to correctly separate into two hemispheres. On the other hand, gain-of-function mutations in GLI2 are associated with Culler-Jones syndrome, a condition characterized by physical abnormalities including a distinctive facial appearance, intellectual disability, and various health problems.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
