Human GTF2IRD1 ELISA Kit (HUFI04001)

GTF2IRD1 (also known as BEN or WBSCR11) is a TFII-I family transcription factor mapped within the Williams-Beuren syndrome critical region on chromosome 7q11.23, where hemizygous deletions drive the cognitive, craniofacial, and neurodevelopmental features of Williams syndrome. The protein participates in chromatin remodeling and gene expression control during embryonic development, with documented roles in craniofacial morphogenesis, neuronal differentiation, and muscle lineage specification, making its abundance a useful biochemical readout for transcriptional regulation studies.

This Assay Genie ELISA kit provides a quantitative immunoassay tool for measuring GTF2IRD1 in human research samples. Reagents are supplied as a 96 Assays format kit intended for research use only. Components should be stored refrigerated, protected from light, and equilibrated to room temperature prior to running the assay, supporting protein quantification studies, gene expression correlation analyses, and characterization of patient-derived material in Williams syndrome and related neurodevelopmental disorder research.