The ATP1A2 gene encodes the alpha-2 (α2) subunit of the Na⁺/K⁺-ATPase, a membrane-bound enzyme critical for maintaining ionic gradients across cell membranes. While ATP1A1 is ubiquitously expressed, ATP1A2 shows high expression in the brain, particularly in astrocytes. This isoform plays a crucial role in astrocyte function, including potassium buffering, glutamate clearance, and metabolic support of neurons. Mutations in ATP1A2 have been linked to familial hemiplegic migraine, epilepsy, and recently implicated in amyotrophic lateral sclerosis (ALS). The gene's dysfunction can lead to impaired neuronal excitability and disrupted calcium homeostasis.
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| Symbol | ATP1A2 |
| Full Name | ATPase Na+/K+ Transporting Subunit Alpha 2 |
| Chromosome | 1q21.3 |
| NCBI Gene | 476 |
| OMIM | 182340 |
| Ensembl | ENSG00000118520 |
| UniProt | P13637 |
| Associated Diseases | Migraine, epilepsy, ALS |
ATP1A2 encodes the alpha-2 subunit of Na+/K+ ATPase. Important for astrocyte function and glutamate clearance.
High expression in brain and astrocytes.