PQBP1( Human )
polyglutamine binding protein 1
Alias
MRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS
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.[provided by RefSeq, Nov 2009].