GLI3 : GLI family zinc finger 3
Description
The GLI3 (GLI family zinc finger 3) is a protein-coding gene located on chromosome 7.
The GLI3 gene plays a vital role in the development of various tissues and organs before birth. The proteins produced from GLI genes bind to specific DNA regions, controlling gene expression. These proteins, known as transcription factors, are involved in the Sonic Hedgehog pathway, which is crucial for early development, regulating cell growth, specialization, and the shaping of structures like the brain and limbs. GLI3 can activate or repress other genes depending on signals from Sonic Hedgehog. Researchers are currently investigating the genes targeted by GLI3 during development.
GLI3 acts as both a transcriptional activator and repressor in the Sonic Hedgehog (Shh) signaling pathway, playing a critical role in limb development. Its full-length form (GLI3FL) becomes an activator (GLI3A) after phosphorylation and moving into the nucleus, while the truncated form (GLI3R) functions as a repressor. The balance between these two forms, rather than their individual gradients, determines the number and identity of limb digits. GLI3 collaborates with TRPS1 to regulate the size of the distal chondrocyte zone, restrict PTHLH expression in distal cells, and promote chondrocyte proliferation. GLI3 binds to the specific DNA sequence 5‘-GGGTGGTC-3‘.
GLI3 is also known as ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV.
Associated Diseases
- Polydactyly, preaxial IV
- Greig cephalopolysyndactyly syndrome
- Tibial hemimelia
- Pallister-Hall syndrome
- Acrocallosal syndrome
- Polydactyly, postaxial, types A1 and B
