DISEASES

Disease-gene associations mined from literature

Literature associating PIGA and multiple congenital anomalies-hypotonia-seizures syndrome 2

PIGA [ENSP00000369820]

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis; Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.

Synonyms:  PIGA,  B3KUV7,  P37287,  B3KUV7p,  hB3KUV7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM