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GTF2IRD2B 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.
Gene Name: | GTF2I repeat domain containing 2B |
Synonyms: | GTF2IRD2B, GTF2IRD2 beta |
Target Sequences: | NM_001003795 NP_001003795.1 Q6EKJ0 |
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