This website provides information on patients with mutations in the PGAP3 gene, including clinical data, molecular data, management and research options.
Many eukaryotic cell-surface proteins are anchored to the membrane via glycosylphosphatidylinositol (GPI). There are at least 30 genes involved in biosynthesis and remodelling of GPI anchors. Hypomorphic coding mutations in 24 of these genes have been reported to cause decreased expression of GPI anchored proteins (GPI-APs) on the cell surface or expression with abnormal structures of GPI-anchor and to cause inherited GPI deficiencies (IGDs). PGAP3 (Post-GPI Attachment To Proteins 3) is involved in fatty-acid remodeling of GPI-APs. In PGAP3 defective cells, GPI-APs cannot be localized on the lipid raft because of the defect in fatty-acid remodeling and such mislocalized GPI-APs cannot function properly.
The syndrome caused by mutations in the PGAP3 gene is a multisystem disorder characterized by autosomal-recessive forms of intellectual disability, developmental delay, epilepsy, muscular hypotonia and hyperphosphatasia. Some patients are reported that they are suffering from a sleeping disorder.
Not all individuals with a mutation in the PGAP3 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PGAP3 gene.
Yoshiko Murakami, MD, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, yoshiko@biken.osaka-u.ac.jp
Taroh Kinoshita, PhD, Research Institute for Microbial Diseases Osaka University, Suita, Osaka, Japan, tkinoshi@biken.osaka-u.ac.jp