Molecular weight (DA)
105kD
Immunogen
Synthesized peptide derived from human GTD2B AA range: 730-780
Specificity
This antibody detects endogenous levels of GTD2B at Human
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.203% 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 encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008],
Function
miscellaneous:GTF2IRD2B 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 GTF2IRD2B 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.,
Other name
General transcription factor II-I repeat domain-containing protein 2B (GTF2I repeat domain-containing protein 2B) (Transcription factor GTF2IRD2-beta)
Human protein sequence Database
Q6EKJ0
Mouse protein sequence database
Rat protein sequence database
Cellular localization
Nucleus.
Tissue expression
Ubiquitous.
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