{"symbol":"PQBP1","synonyms":["MRX55","SHS","MRXS8","RENS1","NPW38","MRXS3"],"name":"polyglutamine binding protein 1","description":"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]","ncbiEntrezGeneId":10084,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10084","proteins":[{"symbol":"PQBP1_HUMAN","href":"/api/1.0/protein/PQBP1_HUMAN"}],"hgncRootFamilies":[{"name":"X-linked mental retardation","href":"/api/1.0/gene_family/X-linked+mental+retardation"}]}