ATP1A2
Function
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.
Involvement in disease
Migraine, familial hemiplegic, 2
FHM2
A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.
None
The disease is caused by variants affecting the gene represented in this entry.
Alternating hemiplegia of childhood 1
AHC1
A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.
None
The disease is caused by variants affecting the gene represented in this entry.
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
FARIMPD
An autosomal recessive disease characterized by fetal akinesia, and generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features. Malformations of cortical development are seen on brain imaging, most commonly polymicrogyria or other gyral anomalies. Death usually occurs in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Developmental and epileptic encephalopathy 98
DEE98
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
Alternative names
KIAA0778, ATP1A2, Sodium/potassium-transporting ATPase subunit alpha-2, Na(+)/K(+) ATPase alpha-2 subunit, Sodium pump subunit alpha-2