Disease-gene associations mined from literature

Literature associating AGFG1 and early infantile epileptic encephalopathy 16

AGFG1 [ENSP00000387282]

Arf-GAP domain and FG repeat-containing protein 1; Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element- containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication; ArfGAPs

Synonyms:  AGFG1,  AGFG1p,  hAGFG1,  A0A024R458,  B8ZZY2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM