Disease-gene associations mined from literature

Literature associating GDI1 and X-linked spondyloepiphyseal dysplasia tarda

GDI1 [ENSP00000394071]

Guanosine diphosphate dissociation inhibitor 1; Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.

Synonyms:  GDI1,  GDI1p,  hGDI1,  B4DHX4,  B4E070 ...

Linkouts:  STRING  Pharos  UniProt  OMIM