ARF guanine nucleotide exchange factor 2
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L ARFGEF2 gene provides instructions for making a protein that helps with the movement (trafficking) of small sac-like structures (vesicles) within the cell. The ARFGEF2 protein converts a molecule called guanine diphosphate (GDP) to another molecule called guanine triphosphate (GTP). This reaction activates an ADP-ribosylation factor, a molecule that is involved in vesicle trafficking. Vesicles transport many types of molecules from the interior of the cell to its surface, where they may attach and interact with other substances, or be secreted by the cell.
Normal function
L ARFGEF2 gene provides instructions for making a protein that helps with the movement (trafficking) of small sac-like structures (vesicles) within the cell. The ARFGEF2 protein converts a molecule called guanine diphosphate (GDP) to another molecule called guanine triphosphate (GTP). This reaction activates an ADP-ribosylation factor, a molecule that is involved in vesicle trafficking. Vesicles transport many types of molecules from the interior of the cell to its surface, where they may attach and interact with other substances, or be secreted by the cell.
Conditions referring to this gene or chromosome
Altri nomi
ADP-ribosylation factor guanine nucleotide-exchange factor 2
BIG2
BIG2_HUMAN
brefeldin A-inhibited guanine nucleotide-exchange protein 2
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Ulteriori letture e riferimenti
- ARF guanine nucleotide exchange factor 2; MedlinePlus, National Library of Medicine.
- Lian G, Sheen V. Cerebral developmental disorders. Curr Opin Pediatr. 2006 Dec;18(6):614-20. doi: 10.1097/MOP.0b013e328010542d.
- Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan 20;494(3):476-84. doi: 10.1002/cne.20806.
- Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004 Jan;36(1):69-76. doi: 10.1038/ng1276. Epub 2003 Nov 30.
- Shin HW, Morinaga N, Noda M, Nakayama K. BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity. Mol Biol Cell. 2004 Dec;15(12):5283-94. doi: 10.1091/mbc.e04-05-0388. Epub 2004 Sep 22.
- Shin HW, Shinotsuka C, Nakayama K. Expression of BIG2 and analysis of its function in mammalian cells. Methods Enzymol. 2005;404:206-15. doi: 10.1016/S0076-6879(05)04020-6.
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