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]
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