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Beschreibung

Spectrin alpha chain, non-erythrocytic 1 (UniProt: Q13813, also known as Alpha-II spectrin, Fodrin alpha chain, Spectrin, non-erythroid alpha subunit) is encoded by the SPTAN1 (also known as NEAS, SPTA2) gene (Gene ID: 6709) in human. Non-erythroid Spectrin plays a role in stabilizing membrane structures, maintaining cell shape and linking the cytoskeleton to plasma membranes or intracellular vesicles. Alpha II-spectrin is a structural protein abundant in neurons of the central nervous system and is cleaved into signature fragments by proteases involved in necrotic and apoptotic cell death. It is one of the primary targets cleaved by activated caspases during apoptosis. The full-length protein can be cleaved to yield an N-terminal product of ~150 kDa, and C-terminal products of ~120 and ~35 kDa. Alpha II- spectrin is involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. It has two calcium-binding regions (aa 2336-2347 and 2379-2390). Its mu-calpain cleavage site is localized at Tyr-Gly (aa 1176-1177). Phosphorylation of Tyrosine 1176 is shown to reduce sensitivity to cleavage by calpain in vitro. Plasma levels of calpain-cleaved Alpha II-Spectrin, N-terminal fragment (SNTF) serve as a useful marker for mild to severe traumatic brain injury and SNTF immunostaining can also reveal previously undetected traumatic brain injury. Mutations in SPTAN1 gene are known to cause early infantile epileptic encephalopathy that is characterized by seizures associated with hypsarrhythmia, profound mental retardation with lack of visual attention and speech development. (Ref.: Siman, R., et al. (2013). Front. Neurol. 4, Article 190, Johnson VE., et al (2016). Acta Neuropathol. 131(1), 115-135).