Anti-SPG3A/ATL1 Antibody Picoband® Fluoro488 Conjugated

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene. The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene.

Eukaryotic translation initiation factor 2-alpha kinase 3; PRKR-like endoplasmic reticulum kinase; Pancreatic eIF2-alpha kinase; HsPEK; EIF2AK3; PEK; PERK

A synthetic peptide corresponding to a sequence in the middle region of human SPG3A/ATL1, which shares 93.8% and 100% amino acid (aa) sequence identity with mouse and rat ATL1, respectively.

Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR) - induced G1 growth arrest due to the loss of cyclin-D1 (CCND1) . Involved in control of mitochondrial morphology and function.

1. Abel, A., Fonknechten, N., Hofer, A., Durr, A., Cruaud, C., Voit, T., Weissenbach, J., Brice, A., Klimpe, S., Auburger, G., Hazan, J. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5: 239-243, 2004. 2. Beetz, C., Nygren, A. O. H., Deufel, T., Reid, E. An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 mutation. (Letter) Neurogenetics 8: 317-318, 2007. 3. D'Amico, A., Tessa, A., Sabino, A., Bertini, E., Santorelli, F. M., Servidei, S. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology 62: 2138-2139, 2004.