Spectrin alpha Antibody

Spectrin alpha (SPTAN1) is involved in secretion, interacts with calmodulin in a calcium-dependent manner and plays a role in the calcium-dependent movement of the cytoskeleton at the membrane. Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5). EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.