Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Eukaryotischer Translations-Initiation-Factor 2-alpha-Kinase 3

Das vom EIF2AK3-Gen kodierte Enzym ist in der Lage die Translation einer jeden Eukarioten Zelle durch Phosphorilierung zu stoppen. Dies hat insbesondere eine wichtige Kontrollfunktion, wenn sich durch chemischen oder physikaischen Stress fehlgefaltete Proteine bilden. Mutationen führen zur autosomal rezessiven Erkrankung Wolcott-Rallison-Syndrom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Wolcott-Rallison-Syndrom
EIF2AK3

Referenzen:

1.

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

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2.

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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3.

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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4.

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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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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

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11.

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

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12.

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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13.

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

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