GTF2I repeat domain containing 1 pseudogene (null)

The **GTF2I repeat domain containing 1 pseudogene (ENSG00000234500)** is a non-functional segment of DNA in the human genome that resembles the functional GTF2IRD1 gene. As a pseudogene, it arose through gene duplication or retrotransposition but acquired mutations that prevent it from producing a functional protein product. Pseudogenes like this are identified by sequence similarity to known genes and loss of protein-coding potential, typically due to frameshift mutations, premature stop codons, or lack of regulatory elements[4][6]. Pseudogenes may be transcribed at low levels but generally do not have biological activity. While the parent gene (GTF2IRD1) is implicated in transcriptional regulation and development, especially in contexts like Williams-Beuren syndrome, the pseudogene does not play a functional or disease-causing role[4][6][7]. The presence of such pseudogenes can sometimes interfere with molecular genetic analyses due to sequence homology, but they are not drug targets, biomarker candidates, or participants in canonical molecular or disease pathways[2][4][6].

Other names

GTF2IRD1 pseudogeneGTF2IRD1P (informally)