ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008],disease:Defects in ARFGEF2 are the cause of autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097], also called periventricular heterotopia with microcephaly autosomal recessive. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.,enzyme regulation:Inhibited by brefeldin A.,function:Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 SEC7 domain.,tissue specificity:Expressed in placenta, lung, heart, brain, kidney and pancreas.,
