Progress of PIG/PGAP gene and related phenotypes
10.3760/cma.j.issn.2095-428X.2019.09.019
- VernacularTitle: PIG/PGAP基因及其相关表型研究进展
- Author:
Tenghui WU
1
;
Jing PENG
Author Information
1. Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China
- Publication Type:Review
- Keywords:
Glycosylphosphatidylinositol-anchored proteins;
PIG/PGAP gene;
Clinical phenotype;
Epilepsy;
Global developmental delay
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(9):714-717
- CountryChina
- Language:Chinese
-
Abstract:
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.
