PIK3R6
Description
The PIK3R6 (phosphoinositide-3-kinase regulatory subunit 6) is a protein-coding gene located on chromosome 17.
PIK3R6, also known as p87 PI3K adapter protein, is a regulatory subunit of the PI3K gamma complex. It acts as an adapter, facilitating activation of the catalytic subunit PIK3CG by beta-gamma G protein dimers. However, compared to another regulatory subunit, PIK3R5, the PIK3CG:PIK3R6 complex exhibits reduced sensitivity to beta-gamma G protein dimers. Membrane recruitment and activation of this complex requires the presence of HRAS bound to PIK3CG. PIK3R6 further facilitates the recruitment of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex, which plays a role in angiogenesis, possibly involving RRAS.
PIK3R6 is also known as C17orf38, HsT41028, p84 PIKAP, p87(PIKAP), p87PIKAP.
Associated Diseases
- neutrophil immunodeficiency syndrome
- X-linked severe congenital neutropenia
- myeloperoxidase deficiency
- neutropenia, severe congenital, 2, autosomal dominant
- autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- nonimmune chronic idiopathic neutropenia of adults
- neutropenia-monocytopenia-deafness syndrome
- reticular dysgenesis
- combined immunodeficiency due to moesin deficiency
- primary immunodeficiency syndrome due to p14 deficiency
- agammaglobulinemia 7, autosomal recessive
- isolated agammaglobulinemia
- X-linked sideroblastic anemia 1
- neutropenia, severe congenital, 1, autosomal dominant
- combined immunodeficiency with skin granulomas
- hereditary neutrophilia
- immunodeficiency 18
