GTF2IRD1 (NM_005685) Human Recombinant Protein

Product Specifications

Background

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. [provided by RefSeq, Nov 2010]

Overview

Recombinant protein of human GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 2

Synonyms

BEN; CREAM1; GTF3; hMusTRD1alpha1; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12

Gene ID

9569

UniProt

Q9UHL9

Accession Number mRNA

NM_005685

Chromosomal Location

7q11.23

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Basal transcription factors

Field of Research

Basal transcription factors

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome, Transcription Factors

Molecular Weight

104.5 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.