EIF2AK3
EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3) is a protein that in humans is encoded by the EIF2AK3 gene. This protein is part of the PERK pathway, which plays a crucial role in the Unfolded Protein Response (UPR). The UPR is activated in response to an accumulation of unfolded or misfolded proteins in the endoplasmic reticulum (ER).
Function[edit | edit source]
EIF2AK3 is an enzyme that acts as a protein kinase. It phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2 (EIF2), leading to its inactivation and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This is a necessary step in triggering the unfolded protein response (UPR).
Clinical significance[edit | edit source]
Mutations in the EIF2AK3 gene are associated with Wolcott-Rallison Syndrome, a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, epiphyseal dysplasia, and other variable clinical manifestations.
See also[edit | edit source]
References[edit | edit source]
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.
Translate this page: - 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
Contributors: Prab R. Tumpati, MD