WebJun 13, 2016 · It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q11.23. Genotype/phenotype analysis of atypical microdeletions implicates two evolutionary-related transcription factors, GTF2I and GTF2IRD1, as prime candidates for the cause of the facial dysmorphology. WebMar 21, 2024 · GeneCards Summary for GTF2IRD1 Gene GTF2IRD1 (GTF2I Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with GTF2IRD1 …
RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides ...
WebObjectives : GTF2I and GTF2IRD1 genes located in Williams-Beuren syndrome (WBS) critical region encode TFII-I family transcription factors. The aim of this study was to map genomic sites bound by these proteins across promoter regions of developmental regulators associated with craniofacial development. WebGTF2IRD1 is a prime candidate for some of the major features of the disease, presumably caused by abnormally reduced abundance of this putative transcriptional repressor protein. GTF2IRD1 has been shown to interact with the E3 SUMO ligase PIASxb, but the significance of this relationship is largely unexplored. the jellies adult swim
GTF2IRD1 in Craniofacial Development of Humans and Mice
WebOur GTF2IRD1 polyclonal and monoclonal antibodies are developed in Rabbit, Goat and Mouse. Find the GTF2IRD1 antibody that fits your needs. Choose from 1 of 15 GTF2IRD1 antibodies, which have been validated in experiments with … WebJun 27, 2024 · GTF2I, GTF2IRD1 and LIMK1, also in the region, have been shown to play a role in retinal and neural development, and are hypothesised to contribute to the visuospatial and cognitive impairments, characteristic facies, and hypersociability observed in WBS patients. 11–15 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 … the jellies wiki