ATP1A4
ATP1A4: A Vital Gene for Brain Health and Beyond
Description
The ATP1A4 gene encodes the alpha-4 subunit of the sodium-potassium pump, a critical membrane protein responsible for maintaining the proper distribution of sodium and potassium ions across cell membranes. This pump is essential for a variety of cellular functions, including:
- Regulating cell volume
- Maintaining electrical excitability
- Transporting nutrients and waste products
ATP1A4 is primarily expressed in the brain, where it plays a key role in neuronal signaling and synaptic plasticity. However, it is also found in other tissues, such as the heart, skeletal muscle, and kidneys.
Associated Diseases
Mutations in the ATP1A4 gene have been linked to several neurological and developmental disorders, including:
- Alternating hemiplegia of childhood (AHC): A rare genetic disorder characterized by episodes of paralysis that alternate between the left and right sides of the body.
- Rapid-onset dystonia-parkinsonism (RDP): A movement disorder that typically develops in childhood or adolescence, causing involuntary muscle contractions and tremors.
- Familial hemiplegic migraine (FHM): A type of migraine headache that is often accompanied by temporary weakness or paralysis on one side of the body.
- Epilepsy: ATP1A4 mutations have been implicated in several types of epilepsy, including childhood-onset and focal epilepsy.
- Intellectual disability: Some ATP1A4 mutations have been associated with intellectual disability and developmental delay.
Did you Know ?
Approximately 1 in 3,000 people carry a mutation in the ATP1A4 gene, making it one of the most common genetic causes of neurological disorders.
