Anti-GTF2IRD1 (aa 431-530) polyclonal antibody

Species Reactivity

Human

Immunogen

GTF2IRD1 (NP_005676, 431 a.a. ~ 530 a.a) partial recombinant protein with GST tag. The sequence is IFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGG LRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSED

Conjugate

Alternative Names

GTF2IRD1; GTF2I repeat domain containing 1; BEN; WBS; GTF3; RBAP2; CREAM1; MUSTRD1; WBSCR11; WBSCR12; hMusTRD1alpha1; general transcription factor II-I repeat domain-containing protein 1; USE B1-binding protein; general transcription factor 3; general tra

Entrez Gene ID

UniProt ID

Antigen 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 plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants.

Pathway

Basal transcription factors; cGMP-PKG signaling pathway;