| Protein Name | polyglutamine binding protein 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 10084 |
| Gene Symbol | PQBP1 |
| UniProt | O60828 (PQBP1_HUMAN), A0A0S2Z4V5 (A0A0S2Z4V5_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
29
Total Number of Articles : 26 |
Description |
polyglutamine binding protein 1 |
| Gene Summary |
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] |
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