MyBioSource.com's Mouse monoclonal antibody Anti-Human GTF2IRD1 is a Mouse monoclonal antibody. The Mouse monoclonal antibody Anti-Human GTF2IRD1 was generated using BEN as the antigen. It reacts with Human. This antibody has been shown to work in applications such as: ELISA, Immunocytochemistry, Immunoprecipitation, and Western Blot.
Description
The 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. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. [NCBI Entrez Gene Summary]