Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Eukaryotic translation initiation factor 2-alpha kinase 3

The EIF2AK3 gene encodes a translation factor kinase which by phosphorylation stops translation in an eukariotic cell. This function is of importance if misfolded proteins are produced due to chemical or physical stress. Mutations cause autosomal recessive Wolcott-Rallison syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Wolcott-Rallison syndrome
EIF2AK3

References:

1.

Lin JH et al. (2007) IRE1 signaling affects cell fate during the unfolded protein response.

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2.

al-Gazali LI et al. (1995) Wolcott-Rallison syndrome.

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3.

Delépine M et al. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

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4.

Brickwood S et al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

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5.

Durocher F et al. (2006) A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

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6.

Shi Y et al. (1998) Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control.

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7.

Shi Y et al. (1999) Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells.

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8.

Hayes SE et al. (1999) Assignment of pancreatic eIF-2alpha kinase (EIF2AK3) to human chromosome band 2p12 by radiation hybrid mapping and in situ hybridization.

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9.

Harding HP et al. (2000) Perk is essential for translational regulation and cell survival during the unfolded protein response.

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10.

Harding HP et al. (2001) Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival.

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11.

Zhang P et al. (2002) The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas.

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12.

Blais JD et al. (2004) Activating transcription factor 4 is translationally regulated by hypoxic stress.

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13.

Kittler R et al. (2004) An endoribonuclease-prepared siRNA screen in human cells identifies genes essential for cell division.

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14.

Orphanet article

Orphanet ID 121317 [^]
15.

NCBI article

NCBI 9451 [^]
16.

OMIM.ORG article

Omim 604032 [^]
17.

Wikipedia article

Wikipedia EN (EIF2AK3) [^]
Update: April 29, 2019