SCA5/SPTBN2 Antibody

SPTBN2/SCA5 is a member of the beta spectrin gene family and a subunit of the spectrin cytoskeletal scaffolding protein that links the plasma membrane to cytoskeletal actin and functions in cellular shape and organelle organization. SPTBN2/SCA5 has been identified as a Golgi- and vesicle-associated spectrin. Mutations in SPTBN2/SCA5 cause spinocerebellar ataxia type 5 (SCA5), an autosomal dominant disease characterized by progressive incoordination of gait, hand, speech, and eye movements.
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