ATP4A ATPase H+/K+ transporting subunit alpha [Zonotrichia leucophrys gambelii] - Gene (2024)

FAQs

What is the ATP4A gene mutation? ›

hom*ozygous missense mutation in the 14th exon of the ATP4A gene (c. 2107C>T) is responsible for an atypical familial type I gastric neuroendocrine tumour. ATP4A are found in nearly one-third of children with type 1 diabetes and more common among females.

The H⁺-K⁺-ATPases are ion pumps that use the energy of ATP hydrolysis to transport protons (H⁺) in exchange for potassium ions (K⁺). These enzymes consist of a catalytic α-subunit and a regulatory β-subunit.

The ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump known as a Na⁺/K⁺ ATPase.

The gastric H,K-ATPase in the parietal cell of the gastric mucosa is responsible for the transport of HCl through membrane by H for K exchange catalyzed by ATP driven phosphorylation/dephosphorylation [1]. It catalyzes an electroneutral exchange of cytoplasmic protons for extracytoplasmic potassium.

Activating missense mutations of the GNAS1 gene, encoding the alpha subunit of the stimulatory G protein (Gs), have been identified in patients with the McCune-Albright syndrome (MAS; characterized by polyostotic fibrous dysplasia, café au lait skin pigmentation, and endocrine disorders).

CTCF-related disorder is characterized by developmental delay / intellectual disability (ranging from mild to severe), with both speech and motor delays being common; feeding difficulties, including dysphagia, and other gastrointestinal issues (gastroesophageal reflux disease and/or irritable bowel syndrome) that can ...

The Na⁺, K⁺-ATPase (NKA) is an ubiquitous enzyme consisting of α, β and γ subunits, and is responsible for the creation and maintenance of the Na⁺ and K⁺ gradients across the cell membrane by transporting 3 Na⁺ out and 2 K⁺ into the cell.

The sodium/potassium adenosine-triphosphatase (Na⁺/K⁺-ATPase) is an essential plasma membrane enzyme that maintains ion homeostasis, cell volume and contractility, electrical signaling, membrane trafficking and vascular tone (7).

[3][4] The Na+K+-ATPase pump helps to maintain osmotic equilibrium and membrane potential in cells. The sodium and potassium move against the concentration gradients. The Na+ K+-ATPase pump maintains the gradient of a higher concentration of sodium extracellularly and a higher level of potassium intracellularly.

Increased Na(+)-K(+)-ATPase activity during exercise stabilizes Na(+) and K(+) concentration gradients and membrane excitability and thus protects against fatigue. However, during intense contraction some Na(+)-K(+) pumps are inactivated and together with further ionic disturbances, likely precipitate muscle fatigue.

How does the sodium-potassium pump affect the heart? ›

The sodium-potassium pump is widely recognized as the principal mechanism for active ion transport across the cellular membrane of cardiac tissue, being responsible for the creation and maintenance of the transarcolemmal sodium and potassium gradients, crucial for cardiac cell electrophysiology.

The sodium-potassium pump (Na,K-ATPase) was discovered in 1957. It plays an important role in contracting the cardiac muscle, kidney function, and nerve signaling. The purpose of the sodium-potassium pump is to maintain the proper concentration of potassium ions K+ and sodium ions Na+ inside and outside of the cell.

ATPases are a group of enzymes that catalyze the hydrolysis of a phosphate bond in adenosine triphosphate (ATP) to form adenosine diphosphate (ADP). They harness the energy released from the breakdown of the phosphate bond and utilize it to perform other cellular reactions.

ATPase enzyme is commonly linked with the proton pump. It helps to breakdown ATP into ADP and inorganic Phosphate. On the other hand, ATP synthase is an enzyme used to synthesize ATP from using ADP and inorganic phosphate.

The gastric hydrogen potassium ATPase or H⁺/K⁺ ATPase is the proton pump of the stomach. It exchanges potassium from the intestinal lumen with cytoplasmic hydronium and is the enzyme primarily responsible for the acidification of the stomach contents and the activation of the digestive enzyme pepsin (see gastric acid).

The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include developmental and speech delay, seizures, and recurrent infections.

Mutations in the KCNH2 gene can cause Romano-Ward syndrome, which is the most common form of a heart condition called long QT syndrome. Mutations in this gene account for approximately 25 percent of cases of Romano-Ward syndrome.

Coffin-Siris syndrome

Expand Section. More than 30 variants (also known as mutations) in the ARID1A gene can cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse.