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Solution structure of the second CH domain of human spectrin beta chain, brain 2Solution structure of the second CH domain of human spectrin beta chain, brain 2
Structural highlights
DiseaseSPTN2_HUMAN Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:600224. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.[1] FunctionSPTN2_HUMAN Probably plays an important role in neuronal membrane skeleton. Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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