PIK3R5 Chromosome 17

Phosphoinositide-3-kinase regulatory subunit 5
3 variants 3 Health Risk

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What This Gene Does
Phosphatidylinositol 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]
Associated Conditions (2)
PIK3R5-related disorder
Ataxia with oculomotor apraxia type 3
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS141086831 Health Risk Conflicting classifications of pathogenicity PIK3R5-related disorder, PIK3R5-related disorder
RS61761068 Health Risk Conflicting classifications of pathogenicity Ataxia with oculomotor apraxia type 3, Ataxia with oculomotor apraxia type 3
RS62620227 Health Risk Conflicting classifications of pathogenicity Ataxia with oculomotor apraxia type 3, Ataxia with oculomotor apraxia type 3
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