GLI3

GLI3 is a gene that in humans is encoded by the GLI3 gene. It is located on chromosome 7 and is part of the GLI family of genes. The GLI3 gene provides instructions for making a protein that is part of the sonic hedgehog pathway, a critical signaling pathway that helps regulate the growth and development of many parts of the body.

Function

The GLI3 protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the GLI3 protein regulates genes involved in the normal shaping (patterning) of tissues and organs during embryonic development.

Clinical significance

Mutations in the GLI3 gene are responsible for several developmental disorders. These include Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and several types of polydactyly.

Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. Mutations in the GLI3 gene are the primary cause of Greig cephalopolysyndactyly syndrome.

Pallister-Hall syndrome

Pallister-Hall syndrome is a disorder that affects development of many parts of the body. Pallister-Hall syndrome is caused by mutations in the GLI3 gene.

Polydactyly

Polydactyly is a condition in which a person is born with more than the usual number of fingers and/or toes. Mutations in the GLI3 gene can cause several types of polydactyly.

See also

• GLI family
• Sonic hedgehog
• Transcription factor
• Greig cephalopolysyndactyly syndrome
• Pallister-Hall syndrome
• Polydactyly

References

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