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Literature summary for 2.7.1.137 extracted from

  • Mirzaa, G.M.; Conti, V.; Timms, A.E.; Smyser, C.D.; Ahmed, S.; Carter, M.; Barnett, S.; Hufnagel, R.B.; Goldstein, A.; Narumi-Kishimoto, Y.; Olds, C.; Collins, S.; Johnston, K.; Deleuze, J.F.; Nitschke, P.; Friend, K.; Harris, C.; Goetsch, A.; Martin, B.; Boyle, E.A.; Parrini, E.; Mei, D.; Tattini, L.; Slavotinek, A.; Blair, E.; Barnett, C.; Shendure, J.; Chelly, J.; Dobyns, W.B.; Guerrini, R.
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study (2015), Lancet Neurol., 14, 1182-1195.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
gene PIK3R2 Homo sapiens

Protein Variants

Protein Variants Comment Organism
G373R naturally occuring mutation in gene PIK3R2 involved in bilateral perisylvian polymicrogyria Homo sapiens
K376E naturally occuring mutation in gene PIK3R2 involved in bilateral perisylvian polymicrogyria Homo sapiens
additional information determmination of constitutional and mosaic mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria, genotying, targeted screening of gene PIK3R2 from 118 subjects, overview. Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O00459 gene PIK3R2
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Synonyms

Synonyms Comment Organism
phosphoinositide-3-kinase
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 Homo sapiens
PIK3
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 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme mutations are involved in bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, that causes the congenital bilateral perisylvian syndrome, featuring oromotor dysfunction, cognitive impairment, and epilepsy. Constitutional and mosaic mutations in the PIK3R2 gene are associated with developmental brain disorders ranging from BPP with a normal head size to the MPPH syndrome. They occur primarily in the caucasian white genotype, phenotypes, overview Homo sapiens