Spastic Paraplegia 11 (SPG11)

Spatacsin is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Human SPG11 shares 85% identity with the homologous protein in dog, 76% with mouse, and 73% with rat. The spatacsin protein includes 4 putative transmembrane domains, suggesting that the protein may be a receptor or transporter, as well as a leucine zipper and coiled-coil domain. It was assigned to the aromatic compound dioxygenase superfamily because of 22% identity with the consensus sequence between residues 2104 and 2381. The SPG11 gene is expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus, and pineal gland.