Atp1A1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
The ATP1A1 gene encodes the alpha-1 (α1) subunit of the Na⁺/K⁺-ATPase, a fundamental membrane protein pump that maintains the electrochemical gradients essential for cellular function. This ubiquitous enzyme is critical for neuronal excitability, secondary active transport, and cell volume regulation. In the brain, ATP1A1 plays a vital role in maintaining resting membrane potential and supporting neurotransmitter reuptake. Dysregulation of ATP1A1 has been implicated in various neurological disorders including stroke, epilepsy, and neurodegenerative diseases. [1]
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| Symbol | ATP1A1 |
| Full Name | ATPase Na+/K+ Transporting Subunit Alpha 1 |
| Chromosome | 1p13.1 |
| NCBI Gene | [476](https://www.ncbi.nlm.nih.gov/gene/476) |
| OMIM | [182340](https://www.omim.org/entry/182340) |
| Ensembl | [ENSG00000163399](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163399) |
| UniProt | [P05023](https://www.uniprot.org/uniprotkb/P05023/entry) |
| Associated Diseases | Stroke, neurodegeneration |
ATP1A1 encodes the alpha-1 subunit of Na+/K+ ATPase. Essential for maintaining ionic gradients and neuronal excitability.
Widely expressed.
The study of Atp1A1 Gene 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.
Sweadner et al. Ion pumps in brain homeostasis (2020). 2020. ↩︎
Benarroch et al. Na/K-ATPase in neurological disease (2019). 2019. ↩︎
de Lores Arnaiz et al. Neuronal Na/K ATPase in neurodegeneration (2020). 2020. ↩︎
Li et al. Alpha subunits in excitotoxicity (2019). 2019. ↩︎
Zhang et al. Ouabain binding and neuroprotection (2020). 2020. ↩︎
Gao et al. ATP1A2 mutations in familial migraine (2019). 2019. ↩︎
Arystarkhova et al. Regulatory pathways of Na/K-ATPase (2020). 2020. ↩︎