|Other Names||Atlastin-1, 365-, Brain-specific GTP-binding protein, GTP-binding protein 3, GBP-3, hGBP3, Guanine nucleotide-binding protein 3, Spastic paraplegia 3 protein A, ATL1, GBP3, SPG3A|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.|
|Cellular Location||Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, axon|
|Tissue Location||Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain Expressed in upper and lower motor neurons (at protein level)|
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The protein encoded by this gene is a GTPase and a Golgibody transmembrane protein. The encoded protein can form ahomotetramer and has been shown to interact with spastin and withmitogen-activated protein kinase kinase kinase kinase 4. Thisprotein may be involved in axonal maintenance as evidenced by thefact that defects in this gene are a cause of spastic paraplegiatype 3. Three transcript variants encoding two different isoformshave been found for this gene.
Cirulli, E.T., et al. Eur. J. Hum. Genet. 18(7):815-820(2010)Park, S.H., et al. J. Clin. Invest. 120(4):1097-1110(2010)Yoshida, T., et al. Int. J. Mol. Med. 25(4):649-656(2010)de Leva, M.F., et al. J. Neurol. 257(3):328-331(2010)Oguri, M., et al. Am. J. Hypertens. 23(1):70-77(2010)
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