GTF2I

GTF2I is a gene that encodes a protein in humans. This protein is part of the TFII-I family of transcription factors, which are involved in the regulation of gene expression. The GTF2I gene is located on chromosome 7 and is associated with several medical conditions, including Williams syndrome and Autism spectrum disorder.

Function

The GTF2I gene provides instructions for making a protein called General Transcription Factor II-I. This protein plays a crucial role in the regulation of gene expression, which is the process by which information from a gene is used to create a functional product, such as a protein. The GTF2I protein is involved in the initiation of transcription, which is the first step in gene expression.

Clinical significance

Mutations in the GTF2I gene have been associated with several medical conditions. For example, deletions of a region of chromosome 7 that includes the GTF2I gene can cause Williams syndrome, a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

In addition, some studies have suggested that variations in the GTF2I gene may be associated with an increased risk of Autism spectrum disorder, although more research is needed to confirm these findings.

See also

• Transcription factor
• Gene expression
• Williams syndrome
• Autism spectrum disorder

References

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