BIG2 Polyclonal Antibody

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.,