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

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

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

• Eukaryotic translation
• Protein biosynthesis
• Endoplasmic reticulum stress

References

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