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.
PQBP1; polyglutamine binding protein 1; mental retardation, X linked 55 , MRX55, MRXS8, RENS1, SHS, Sutherland Haan X linked mental retardation syndrome; polyglutamine-binding protein 1; 38 kDa nuclear protein containing a WW domain; Mental retardation, X linked 55; MRX55; MRXS3; MRXS8; Npw38; Nuclear protein containing WW domain 38 kD; OTTHUMP00000025808; Polyglutamine tract binding protein 1; PQBP 1; RENS1; SHS; Sutherland Haan X linked mental retardation syndrome; PQBP-1; OTTHUMP00000025809; OTTHUMP00000025812; polyglutamine tract-binding protein 1; SHS, MRX55, MRXS3, MRXS8, NPW38, RENS1; pqbp1l; zgc:92646; si:dz150f13.4