PQBP1 Rabbit pAb

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. Synonyma: SHS, MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, PQBP1