This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PQBP1-20-RE | 20 (40 μL) | 200 μL |  |
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| PQBP1-20-OR | 20 (40 μL) | 200 μL |  |
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| PQBP1-20-GO | 20 (40 μL) | 200 μL |  |
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| PQBP1-20-GR | 20 (40 μL) | 200 μL |  |
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| PQBP1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Gene Symbol : PQBP1
Gene Name : Polyglutamine binding protein 1
Chromosome : CHR X: 488,978,61-489,031,44
Locus : Xp11.23
Alt. Genes : FEM1B
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