Molecular weight (DA)
105kD
Immunogen
Synthesized peptide derived from human GTD2A AA range: 529-579
Specificity
This antibody detects endogenous levels of GTD2A at Human
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.202% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013],
Function
miscellaneous:GTF2IRD2 is a gene located in the Williams-Beuren syndrome (WBS) critical region. WBS is the result of a chromosomal microdeletion 7q11.23 thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Since GTF2IRD2 maps within this duplicated region, more than one copy of the gene was identified. WBS is a rare developmental disorder characterized by distinctive dysmorphic face, mild growth retardation, supravalvular aortic stenosis and infantile hypercalcemia.,similarity:Belongs to the TFII-I family.,similarity:Contains 2 GTF2I-like repeats.,tissue specificity:Ubiquitous.,
Gene Name
GTF2IRD2 GTF2IRD2A
Other name
General transcription factor II-I repeat domain-containing protein 2A (GTF2I repeat domain-containing protein 2A) (Transcription factor GTF2IRD2-alpha)
Human protein sequence Database
Q86UP8
Mouse protein sequence database
Rat protein sequence database
Cellular localization
Nucleus.
Tissue expression
Ubiquitous.
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