9hvd

Structural highlights

Disease

EI2BG_HUMAN Juvenile or adult CACH syndrome;Congenital or early infantile CACH syndrome;Cree leukoencephalopathy;Late infantile CACH syndrome;Ovarioleukodystrophy. The disease is caused by mutations affecting the gene represented in this entry.

Function

EI2BG_HUMAN Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.