ATP12A
Description
The ATP12A (ATPase H+/K+ transporting non-gastric alpha2 subunit) is a protein-coding gene located on chromosome 13.
ATP12A, also known as Potassium-transporting ATPase alpha chain 2, is a protein encoded by the ATP12A gene. It belongs to the family of P-type cation transport ATPases. ATP12A is the catalytic subunit of the ouabain-sensitive H+/K+ -ATPase, which catalyzes the hydrolysis of ATP and couples it with the exchange of H+ and K+ ions across the plasma membrane. ATP12A is also responsible for potassium absorption in various tissues.
ATP12A, also known as HK alpha 2, is a catalytic subunit of a proton pump (H(+)/K(+) ATPase) and/or sodium pump (Na(+)/K(+) ATPase) that transports potassium (K(+)) ions into cells in exchange for sodium (Na(+)) and/or hydrogen (H(+)) ions across the apical membrane of epithelial cells. It uses ATP as an energy source for this process. ATP12A plays a role in maintaining electrolyte balance by absorbing potassium in the kidneys and colon. In the airway epithelium, it may be involved in mucus acidification, which regulates mucus viscosity and clearance.
ATP12A is also known as ATP1AL1, H-K-ATPase, HK.
Associated Diseases
- cystic fibrosis
- spindle cell hemangioma
- laryngeal carcinoma
- hypercalcemia, infantile, 2
- Dent disease
- isolated hyperchlorhidrosis
- nephronophthisis 3
- renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- renal hypomagnesemia 2
- autosomal dominant distal renal tubular acidosis
