WebThe Gtf2ird1 transcript is detectable from early stages of embryogenesis through to the development of specific tissues including cartilage, muscle, heart, brain and tooth buds. In the developing head, many of the hard and soft tissue components express Gtf2ird1. WebGTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise …
GTF2IRD1 in craniofacial development of humans and mice
WebThe protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. WebGTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated … ems discord server template
Biallelic GTF2IRD1 variants in brothers with profound ...
WebWilliams syndrome is a rare congenital disorder involving the cardiovascular system, mental retardation, distinctive facial features, and tooth anomalies. It is caused by the heterozygous deletion of approximately 1.6 Mb encompassing 28 genes on human chromosome 7q11.23. It has been suggested that t … WebJul 19, 2024 · Two of the genes, GTF2I and GTF2IRD1, had previously been linked to social behavior in mice as well as in people with Williams syndrome. In 2009, Uta Francke and her colleagues at Stanford University in California found that mice were unusually eager to socialize when they were missing those two genes. WebThe GTF2IRD1 gene is located in a region of chromosome 7 that is deleted in people with Williams syndrome, which is a developmental disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. As a ems diversity