The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 44 kDa (predicted molecular weight: 49 kDa). (Isoform 1, 279 kDa).
Tissue specificityExpressed in all structures of brain, with a high expression in cerebellum.
Involvement in diseaseDefects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11) [MIM:604360]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Post-translational modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.