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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.

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

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2.

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

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3.

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

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4.

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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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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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13.

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

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14.

Orphanet article

Orphanet ID 121317 external link
15.

NCBI article

NCBI 9451 external link
16.

OMIM.ORG article

Omim 604032 external link
17.

Wikipedia article

Wikipedia EN (EIF2AK3) external link
Update: Aug. 14, 2020
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