GTF2I

General transcription factor II-I is a protein that in humans is encoded by the GTF2I gene.

Function

This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. The exon(s) encoding 5' UTR has not been fully defined, but this gene is known to contain at least 34 exons, and its alternative splicing generates 4 transcript variants.

Interactions

GTF2I has been shown to interact with:

References

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.