XB-FEAT-6457433: Difference between revisions
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=studies on human disease= | =studies on human disease= | ||
notes from talk by Gerry Thompson, August 2017, XERT @NXR, WoodsHole MA | notes from a talk by Gerry Thompson, August 2017, XERT @NXR, WoodsHole MA | ||
mutations in pqpc1 are associated with neural development defects in early development and are associated with mental deficiency | see XB-ART-49433 | ||
pqpb1 is a pre-mRNA splicing protein | |||
pqbp1 MO KO have defective neural differentiation, neuron development in brain is repressed, also defective | mutations in pqpc1 are associated with neural development defects in early development and are associated with mental deficiency syndromes in humans. | ||
wbp11 and pqbp1 morphants are similar, and when MOs combined, both MOs cause | |||
pqpb1 is a pre-mRNA splicing protein and interacts with wbp11 | |||
pqbp1 MO KO have defective neural differentiation, neuron development in the brain is repressed, also defective mesoderm is seen | |||
wbp11 and pqbp1 morphants are similar, and when MOs combined, both MOs cause gastrulation failure (embryonic lethality) | |||
=summary from ncbi= | =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] | 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] | ||
Latest revision as of 07:01, 6 November 2019
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 a 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 syndromes in humans.
pqpb1 is a pre-mRNA splicing protein and interacts with wbp11
pqbp1 MO KO have defective neural differentiation, neuron development in the brain is repressed, also defective mesoderm is seen
wbp11 and pqbp1 morphants are similar, and when MOs combined, both MOs cause gastrulation failure (embryonic 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]