ATP1A2 : ATPase Na+/K+ transporting subunit alpha 2

Description

The ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) is a protein-coding gene located on chromosome 1.

The ATP1A2 gene provides instructions for making the alpha-2 subunit of the Na+/K+ ATPase protein. This protein uses energy from ATP to transport sodium ions out of cells and potassium ions into cells, primarily in glial cells of the nervous system. The Na+/K+ ATPase plays a key role in neuronal communication by regulating neurotransmitter clearance from the spaces between neurons.

The ATP1A2 gene encodes the alpha-2 subunit of the Na+/K+ ATPase, a protein crucial for maintaining the electrochemical gradient across cell membranes. It catalyzes the hydrolysis of ATP, using this energy to pump sodium ions out of cells and potassium ions into cells. This exchange creates the electrochemical gradient essential for active transport of various nutrients.

ATP1A2 is also known as DEE98, FARIMPD, FHM2, MHP2.

Associated Diseases

• Migraine, familial hemiplegic, 2
• Alternating hemiplegia of childhood 1
• Alternating hemiplegia of childhood
• Familial or sporadic hemiplegic migraine
• Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
• Developmental and epileptic encephalopathy 98
• Non-specific early-onset epileptic encephalopathy
• Familial hemiplegic migraine
• Sporadic hemiplegic migraine