Disease-gene associations mined from literature

Literature associating ARFGEF1 and generalized epilepsy with febrile seizures plus 4

ARFGEF1 [ENSP00000262215]

ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited); Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturaion of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competetive RhoA binding. The function in the nucleus remains to be determined; Armadillo-like helical domain containing

Synonyms:  ARFGEF1,  ARFGEF1p,  hARFGEF1,  A0A024R7X0,  ARFGEF1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM