SPTBN2
SPTBN2 (Spectrin Beta Non-Erythrocytic 2) is a protein that in humans is encoded by the SPTBN2 gene. It is a member of the spectrin gene family and is predominantly expressed in the brain.
Function[edit | edit source]
SPTBN2 is a member of the spectrin gene family which act as cytoskeleton proteins in the cell. Spectrin, together with other proteins, plays a significant role in maintaining the stability and flexibility of plasma membrane. The SPTBN2 gene is known to be involved in the formation of the neuronal cytoskeleton.
Clinical significance[edit | edit source]
Mutations in the SPTBN2 gene have been associated with spinocerebellar ataxia type 5. In addition, the gene has been implicated in other neurological disorders, including West syndrome, Ohtahara syndrome, and epileptic encephalopathy.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
