XB-FEAT-6457433

pqbp1

This is the community wiki page for the gene pqbp1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

studies on human disease

notes from talk by Gerry Thompson, August 2017, XERT @NXR, WoodsHole MA

 see XB-ART-49433

mutations in pqpc1 are associated with neural development defects in early development and are associated with mental deficiency symdromes in humans. pqpb1 is a pre-mRNA splicing protein, and interacts with wbp11 pqbp1 MO KO have defective neural differentiation, neuron development in brain is repressed, also defective mesdoerm wbp11 and pqbp1 morphants are similar, and when MOs combined, both MOs cause gastrualtion failure ( lethality)

summary from ncbi

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]