Spectrin
| Spectrin | ||
|---|---|---|
| Mass / length primary structure | α + β = 2418 + 2136 = 4554 amino acids | |
| Secondary to quaternary structure | Poly- (α + β) | |
| Identifier | ||
| Gene name (s) | SPTA1 , SPTB | |
Spectrin is a protein complex and an essential part of the cytoskeleton of the erythrocytes , but is also found in other cells. Together with actin, it stabilizes the inside of the cell membrane and thus the entire cell. Genetic defects in SPTA1 - gene cause inherited diseases of hereditary spherocytosis type 3, elliptocytosis type 2 and pyropoikilocytosis . Mutations in the SPTB gene can cause type 1 spherocytosis and type 3 elliptocytosis.
Mutations in the gene SPTBN2 , which codes for the protein betaIII-spectrin, cause spinocerebellar ataxia type 5 (SCA5) in humans . In a mouse model it was found that the symptoms of human SCA5 are reproduced without the full-length betaIII spectrin. These include gait ataxia , tremors , loss of motor coordination, loss of Purkinje cells and cerebellar - atrophy .
Individual evidence
- ↑ UniProt P02549 , UniProt P11277
- ↑ EM Perkins, YL Clarkson, et al. a .: Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. In: Journal of Neuroscience . Volume 30, number 14, April 2010, pp. 4857-4867, doi : 10.1523 / JNEUROSCI.6065-09.2010 , PMID 20371805 , PMC 2857506 (free full text).