Spectrin Alpha Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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|
| Protein Name |
Spectrin Alpha Chain, Non-erythrocytic |
| Gene |
SPTAN1 |
| UniProt ID |
Q9H8Q0 |
| PDB Structure |
1u4p |
| Molecular Weight |
~284 kDa |
| Subcellular Localization |
Cytoskeleton, axon initial segment, nodes of Ranvier |
| Protein Family |
Spectrin family |
Spectrin Alpha Protein (SPTAN1) is a protein involved in cellular signaling and molecular processes. It is expressed in various tissues including the brain and plays roles in neuronal function and disease mechanisms.
Spectrin alpha is a large cytoskeletal protein:
- SH3 domain: At N-terminus
- Spectrin repeat domains: 20 alpha-helical repeats form flexible rod
- Calmodulin-binding domain: At C-terminus
- PH domain: Membrane association
In neurons, spectrin forms the membrane-associated cytoskeleton:
- Axon initial segment: Forms specialized cytoskeleton at AIS
- Nodes of Ranvier: Maintains molecular organization
- Synaptic structure: Supports dendritic spine architecture
- Membrane stability: Links membrane proteins to actin cytoskeleton
¶ Epilepsy and Neurodevelopmental Disorders
- R1590H mutation associated with early-onset epilepsy
- Disrupted axon initial segment function
- De novo mutations cause infantile spasms and developmental regression
- Impaired neuronal excitability
- Spectrin fragmentation observed in AD brains
- Contributes to synaptic loss
The study of Spectrin Alpha Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- Baines AJ (2010) The spectrin membrane skeleton. Curr Opin Cell Biol 22(4):422-429. PMID: 20471238
- Goodman SR et al. (2011) Spectrin and ankyrin-based cytoskeleton. J Biomed Biotechnol 2011:181497. PMID: 22174559
- Sikorski AF et al. (2000) Spectrin function in the brain. Biochim Biophys Acta 1501(2-3):144-158. PMID: 10775628
- Leterrier C et al. (2015) Spectrin in dendritic spine morphology. J Neurosci 35(20):7683-7694. PMID: 25972141
-Machnicka B et al. (2014) Spectrin in neurodegeneration. Biochim Biophys Acta 1842(10):1473-1481. PMID: 24954179
- Micheva KD et al. (2010) Spectrin and synaptic plasticity. Proc Natl Acad Sci USA 107(32):14070-14074. PMID: 20675581
- D'Ortenzio RM et al. (2019) Spectrin breakdown in brain injury. J Neurotrauma 36(11):1703-1713. PMID: 30489320
- Rakhmanova V et al. (2020) Spectrin-based membrane repair in neurodegeneration. Cell Mol Neurobiol 40(7):1075-1085. PMID: 32060727