Human TBX6 ELISA Kit (HUFI08391)

Manufactured by Assay Genie, the T-box transcription factor 6 (TBX6) protein is encoded by the TBX6 gene on chromosome 16p11.2 and directs paraxial mesoderm specification and somite segmentation during early vertebrate embryogenesis. Compound heterozygous loss-of-function variants in this locus are the leading monogenic cause of congenital vertebral malformations, spondylocostal dysostosis, and adolescent idiopathic scoliosis.

A standard sample volume of 100 µL per well is recommended. Reagents are supplied as a complete kit in a microplate configuration with pre-coated wells, lyophilised standards, detection antibody, wash buffer concentrate, TMB substrate, and stop solution; refrigerate all components at 2–8 °C and protect the substrate from light until use.

Intended for research use only, the assay is compatible with standard curve-based quantification and has been applied in published studies of TBX6-associated copy number variants and 16p11.2 deletion syndromes; reactivity is confirmed for human TBX6 with no significant cross-reactivity observed for the related T-box family members TBX5, TBX18, or TBX20.