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PQBP1

Official Full Name
polyglutamine binding protein 1
Organism
Homo sapiens
GeneID
10084
Background
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]
Synonyms
SHS; MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1;

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