Literature associating RAB3IL1 and achondrogenesis
Guanine nucleotide exchange factor for Rab-3A; Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B; Belongs to the SEC2 family.
Synonyms: RAB3IL1, RAB3IL1p, hRAB3IL1, E9PK89, H0YD19 ...