InterPro domain: IPR028103

Defects in the spatacsin gene are the cause of spastic paraplegia 11, a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs [ 1 ]. Human and rat spacticin protein has been shown to be expressed in the central nervous system, particularly in cortical and spinal motor neurons as well as in retina [ 2 ].

1. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat. Genet. 39, 366-72
2. Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol. Cell. Neurosci. 47, 191-202