RESUMEN
More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). From the synthesis of GPI anchors, binding to proteins to localization on cell membranes, these processes are regulated by a wide range of genes, including PIG genes such as PIGA, PIGB, PIGC, and PGAP genes such as PGAP1, PGAP2, etc.Recently, the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now, the inheritance and clinical features, treatment and genotype/phenotype associated with PIG/PGAP gene related diseases, were reviewed.
RESUMEN
More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI).From the synthesis of GPI anchors,binding to proteins to localization on cell membranes,these processes are regulated by a wide range of genes,including PIG genes such as PIGA,PIGB,PIGC,and PGAP genes such as PGAP1,PGAP2,etc.Recently,the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now,the inheritance and clinical features,treatment and genotype/phenotype associated with PIG/PGAP gene related diseases,were reviewed.