XB-FEAT-6457433: Difference between revisions
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=pqbp1= | =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 | 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] | |||
Revision as of 06:34, 29 August 2017
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]