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gene: PIK3R5

id23533
symbolPIK3R5
organismHomo sapiens
full namephosphoinositide-3-kinase regulatory subunit 5
summaryPhosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
variant-disease

NM_001142633.2(PIK3R5):c.933A>G (p.Leu311=) AND not specified

NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) AND Ataxia-oculomotor apraxia 3

NM_001142633.2(PIK3R5):c.2554A>G (p.Thr852Ala) AND not provided

NM_001142633.2(PIK3R5):c.2281C>T (p.Arg761Trp) AND not provided

NM_001142633.2(PIK3R5):c.1011C>T (p.Asp337=) AND not specified

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