ATP6V0A2
ATP6V0A2 is a gene that provides instructions for making a protein that is part of a large enzyme complex known as V-ATPase (vacuolar ATPase). This complex is important for the transport of ions across cell membranes, a critical task for normal cell functioning.
Function[edit | edit source]
The ATP6V0A2 protein is a component of the V0 domain. V-ATPases are ATP-dependent proton pumps composed of a peripheral ATPase domain (V1) and a membrane-integral proton-translocating domain (V0) and are involved in many processes including lysosome acidification, bone resorption, and sperm maturation.
Clinical significance[edit | edit source]
Mutations in the ATP6V0A2 gene are associated with autosomal recessive cutis laxa type II (ARCL2), a disorder characterized by cutis laxa (loose, sagging skin), distinctive facial features, joint laxity, severe developmental delay, and associated neurological abnormalities.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
ATP6V0A2 Resources | ||
---|---|---|
|
|
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
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 / Zepbound) 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: Prab R. Tumpati, MD