ATP2A2
ATP2A2 is a gene that encodes the enzyme SERCA2, a type of calcium pump found in the sarcoplasmic reticulum of cells. This enzyme plays a crucial role in the regulation of intracellular calcium levels, which is essential for various cellular processes, including muscle contraction, neurotransmission, and cell division.
Function[edit | edit source]
The ATP2A2 gene provides instructions for making an enzyme called SERCA2. This enzyme is found in the sarcoplic reticulum, a structure inside cells that stores calcium ions. SERCA2 helps maintain the correct balance of calcium ions inside cells by transporting these ions into the sarcoplasmic reticulum. This process is powered by a molecule called adenosine triphosphate (ATP).
Clinical significance[edit | edit source]
Mutations in the ATP2A2 gene are associated with Darier's disease, a skin disorder characterized by wart-like blemishes on the body. The blemishes are caused by abnormal calcium regulation in skin cells, which is thought to result from a malfunctioning SERCA2 enzyme.
See also[edit | edit source]
References[edit | edit source]
Template:Genes on human chromosome 12
Template:Membrane transport protein: ion pumps
Translate: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Admin, Prab R. Tumpati, MD