PQBP1, Official Symbol PQBP1provided by HGNC Official Full Name polyglutamine binding protein 1provided by HGNC Primary source HGNC:HGNC:9330 See related Ensembl:ENSG00000102103 MIM:300463; AllianceGenome:HGNC:9330 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1 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 cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009] Expression Ubiquitous expression in ovary (RPKM 25.3), adrenal (RPKM 17.1) and 25 other tissues See more Orthologs mouse all