Entrez gene ID | | 10084 |
Official gene symbol | | PQBP1 |
Full name | | polyglutamine binding protein 1 |
Aliases | | ,MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS, |
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 mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. |
Location | | Chromosome: X Locus: Xp11.23 |
Gene position | | 48755195 - 48760422 Map Viewer |
Gene orientation | | plus |
Gene size | | 5228 bp |
Gene sequence |
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OMIM ID | | 300463 |