Recombinant Human General transcription factor II-I (GTF2I) , partial
Description
MW: 30,409 Da. Purity >85% (SDS-PAGE). This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21.
Size
n/a
Concentration
n/a
Applications
n/a
Other Names
[general transcription factor II-I isoform 5; General transcription factor II-I; general transcription factor II-I; general transcription factor IIi; Bruton tyrosine kinase-associated protein 135; BAP-135; BTK-associated protein 135; SRF-Phox1-interacting protein; SPIN; Williams-Beuren syndrome chromosomal region 6 protein]