Overview
Study
Pilot: Phosphatidylinositol metabolism
Study Id
COSU52
Description
This gene set includes proteins which control the synthesis and turnover of phosphatidylinositol. Phosphatidylinositol is synthesised in the endoplasmic reticulum before translocating to cytosolic membrane surfaces where it plays an important role in many cellular processes. Reversible phosphorylation of its inositol ring at one of three positions results in the generation of different phosphoinositide species. Phosphoinositides, amongst other functions, play an integral role in cell signalling. Mutations in the phosphatidylinositol-3-kinase PIK3CA and the lipid phosphatase PTEN are associated with many types of cancer.
Sequencing of any given sample through the gene sets should be considered work in progress. Lack of reported mutations in any given gene for a particular sample does not necessarily imply the sample is wildtype for the gene.
Genes Analysed
90
Mutations
69